Pediatrics Board Review

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When is delayed puberty in females?
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Terms in this set (920)
When is delayed puberty in females?
13-14 years old
When is precocious puberty in females?
Before 8
When is delayed puberty in males?
14-15
When is precocious puberty in males?
Before 9
What is the first sign of puberty in females? (Tanner 2)
Breast bud development
What is the first sign of puberty in males? (Tanner 2)
Enlarged testicular volume (>4mL)
When do females stop growing? (Tanner 5)
16 years old
When do males stop growing? (Tanner 5)
17 or 18 years old
When do females have adult-looking breasts?
Tanner 3 AND 5 (they get bigger during 4 with enlarged areola "mound on mound")
How long does Tanner 2-5 last?
3-5 years
What Tanner Stage does Menarche begin?Tanner 3 or 4, OR within 2-3 years of pubertyWhen/what is peak height velocity for females?Tanner 3, about 8-10 cm/yrWhen do you expect pubertal gynecomastia? How long will it last?50% of boys between 10-16 will have it, will resolve in 3 yearsIs vaginal bleeding before Tanner 3 normal?NoWhat is pre-pubertal basal rate for height growth?5-6cm per year. Peak is ~10cm per year. Earlier puberty results in shorter heightWhat is the order of puberty in females?Thelarche --> Adrenarche --> Menarche aka Breasts --> Hair --> MensesWhat is the order of puberty in males?Testicular enlargement --> Adrenarche --> Penis enlargement, THEN height velocity peaksWhat are the roles of estrogen/androgens in puberty?Estrogen: Breast development, vaginal color change, labial prominence Androgens: Pubic hair developmentWhat do you do if someone presents with premature adrenarche (pubic hair with no breasts/no testicular enlargement)?Get bone age films. Ok to observe if within 1-2 years of chronological ageWhat syndrome should you be thinking of in females with no breasts, scant hair, and no menses?Turners, get karyotypeHow do you differentiate Fibrocystic change and Fibroadenomas?Fibrocystic change: Bilateral, tender. Treat with NSAIDs, caffeine elimination Fibroadenomas: Unilateral. Estrogen dependent (bigger with OCPs/Pregnancy).When does puberty start in females?8-13When does puberty start in males?9-14Is premature adrenarche in females concerning? Males?Common in girls. VERY concerning in males. If they are in premature adrenarche, consider Congential Adrenal Hyperplasia over adrenal tumor on test.What does "Tropic" refer to?Central hormones. For example, Hypergonadotropic refers to an excess of central hormonesIs premature thelarce concerning?No. Can occur/mostly occurs around 2 years of age. Can be unilateral or bilateral. As long as its not associated with other secondary sex characteristics, OK to observe. If there are other secondary sex characteristics, look for excess estrogens from an exogenous source.Why should a prolactinoma be on your differential for delayed puberty? What will you see on LH/FSH testing?Prolactin suppressed GnRH secretion, will be associated with low LH and FSH levels.What syndrome is associated with Hypogonadotropic Hypogonadism?Kallman's, especially if anosmicDoes Turner's Syndrome result in Hypo or Hyper gonadotropic ovarian failure?Hyper. The TROPINS are elevated because the patient has no real ovaries to provide hormones and negative feedback.How do you differentiate between Constitutional Growth Delay and GH deficiency?Constitutional Delay: normal velocity on growth chart line, just in the 3-5th percentile. Will eventually catch up. GH Deficiency: Not normal velocity, will cross lines on growth chart (will also have micropenis or clitoris with hypoglycemia, possibly manifesting as seizures)What endocrine/pubertal condition should you consider when presenting with short + overweight + delayed bone age + constipation + dry skin?HypothyroidismWhat endocrine/pubertal condition should you consider when presenting with hyperandrogenism, premature closure of growth plates, with early puberty with accelerated growth but a short final height?CAHHow does Klinefelter's (XXY) present?TALL stature, gynecomastia, small testes, infertility, normal IQ to mild intellectual disability.What is the chromosomal makeup of Klinefelter's?XXYHow does Marfan's present?TALL stature, long and thin extremities, long fingers, pectus deformity, hypermobility, and mitral valve prolapse/aortic dissection risk. Also can have lense subluxation.What is the cardiac deformity associated with Marfan's?Mitral Valve Prolapse, Aortic Dissection MVP = Michael Phelps of 2008 OlympicsWhat direction is the lens subluxation in Marfan's?SuperiorIf the patient is tall, is it Cushing's?NoWhat is the characteristic growth chart pattern with malabsorptive disorders?Initial decline in weight, THEN a deceleration of height or length. This suggests caloric insufficiency.What should you consider if you see a drop in weight without a drop in height (yet)?SEVERE underlying disorders. Consider GI workup (celiac/malabsorption), renal, metabolic disordersWhat system should you be thinking of if height/weight are falling on the curves with a preservation of head circumference?Endocrine.When does menarche occur?Tanner 3-4What does LH yield? FHS?LH --> Progesterone FSH --> Estrogen (which is for breast development)What is the first step in Amenorrhea testing?HCGAfter an HCG, how do you work up Amenorrhea?Remember that LH --> Progesterone FSH --> Estrogen (which is for breast development) First step is to do PROGESTERONE challenge. This should make the patient bleed within 2 weeks.When working up Amenorrhea, how do you interpret a positive Progesterone challenge? (Positive = they bled after given progesterone)Remember that LH --> Progesterone FSH --> Estrogen (which is for breast development) If PROGESTERONE triggers bleeding, it means there is plenty of ESTROGEN, but low progesterone. Get an LH to investigate. High LH level = PCOS Low LH level= Get Prolactin and TSH to rule out Prolactinoma and HypothyroidWhen working up Amenorrhea, how do you interpret a negative Progesterone challenge? (Negative = they did NOT bledd after given progesterone)Remember that LH --> Progesterone FSH --> Estrogen (which is for breast development) If Negative, not enough ESTROGEN. Get an FSH to investigate further High FSH = Consider Ovarian Failure (Turner's, autoimmune disorder, chemo, menopause) Low FSH = Central Problem (Mass, Prolactinoma, Craniopharyngioma, Hypothyroid)When is workup for primary amenorrhea indicated?-Puberty ended 2 years ago (when they are Tanner 5) -Patient is 13 and lacks secondary sex characteristics -Normal growth and secondary sex characteristics with SMR 2-5 pubic hair and breast development, but now is 15 with no mensesWhat is normal during the first two years of menstruation? Abnormal?Normal: Frequent cycles, cycles lasting 2-3 days Abnormal: Cycles lasting >7 days, cycle frequency outside 24-38 daysCan marijuana use cause galactorrhea?Yes, even in boysWhen should a Pap Smear be performed? How frequently?Start at 21 years of age, get one every 3 years if you're between 21 and 30.Which strains of HPV are the most commonly associated with cervical cancer?16 and 18Condyloma Acuminata vs. Condyloma LataAcuminata: hpV (imagine "A" flipped over) Lata: shyphiLis (track the "L"'s"What are some clinical and lab findings of exogenous anabolic steroid use?Girls start to look/sound like boys, and vice versa. Labs: Liver dysfunction, low HDL, high LDL, emotional lability, HTNWhat will your acid/base status be with eating disorders?HypOkalemic, hypOchloremic metabolic ALKalosis (think vomiting acid and nutrition)Hydrocele vs. Spermatocele vs. VaricoceleAll painless Hydro/Spermatocele transilluminate Varicocele is usually on L sideDefine Thyroglobulin Thyroxine-Binding Globulin Thyroxine Free T4Thyroglobulin: Protein ONLY in thyroid. Used to make thyroid hormones Thyroxine-Binding Globulin: Carries thyroid hormones in blood Thyroxine/T4: Hormone bound to TBG (above), inactive Free T4: ACTIVE hormone in bloodWhat are the symptoms of Congenital Hypothyroidism?Puffiness, large tongue, hoarse cry, umbilical hernia, hypotonia, large fontanelle, constipation, mottlingHow do you screen for congenital hypothyroidism?TSH (in utero some of mom's thyroxine crosses the placenta)Symptoms and Labs of Hashimoto's ThyroiditisLabs: +anti TPO or +antithyroglobulin, Low FT4, elevated TSH Symptoms: painless goiter/thyromegalyWill reactive iodine uptake in Hashimoto's be high or low?Low "The thyroid is being destroyed, how can it take up any iodine?"If TSH is abnormal on the newborn screen, what should you do?Start Levothyroxine NOW and get labs. Shoot first, ask questions later because of the tremendous cognitive delays it can cause if therapy not started within 4 weeks.How should you manage thyroglossal duct cysts?They can get infected pretty easily, so if thyroid is intact, these should be removed.If a patient has symptoms that could be suggestive of Neonatal Thyrotoxicosis vs an Inborn Error of Metabolism, how can you distinguish the two?Age of onset. Inborn errors of metabolism will not be present in the immediate newborn period. Neonatal Grave's will be immediately because of placental cross.What does Hypercalcemia do to the ST segment/QT interval?Shortens bothWhat is the initial treatment for hypercalcemia?IV Hydration, due to the osmotic diuresis caused by excretion of calcium.What electrolyte abnormality will you see with William's Syndrome?HypercalcemiaDoes hyperparathyroidism cause hypo or hypercalcemia?HypercalcemiaWhat are the symptoms associated with Hypercalcemia?Bones: Osteoporosis, osteomalacia, pathologic fractures, osteitis fibrosis Stones: Nephrolithiasis, nephrocalcinosis, nephrogenic DI Abdominal Groans: N/V/Constipation Psychiatric Overtones: Coma, delirium, depression, fatigue, psychosisWhat are the symptoms associated with hypocalcemia?Paresthesias, Tetany, Trousseau's/Chvostek's sign, seizures that do not respond to benzodiazepines , larygnospasm, prolong QTWhat does hypocalcemia do to QT interval?Prolongs itWhat do you give to stabilize the heart in Hypocalcemia?Calcium GluconateWhat does hypoparathyroidism do to calcium and phosphorus?Low Calcium High PhosphorusWhat are the lab findings and physical exam features in patients with Pseudohypoparathyroidism?Autosomal Dominant disorder in which receptors are resistant to PTH. Serum PTH will be high, but Calcium will be low with High Phos. Look for brachydactyly (short and stubby fingers/toes), developmental delay, moon faciesWhat is the relationship between 25-Vitamin D and 1, 25 Vitamin D? When should you check each?Liver sends 25-Vitamin D to the kidneys, where it gets hydroxylated to the 1, 25 Vitamin D. (Think 2 numbers, 2 kidneys) 1, 25 Vitamin D is ACTIVE Check 25 if looking for nutritional deficiency or as a screening Check 1, 25 if given a history of renal diseaseDo you supplement with 25 or 1, 25 Vitamin D?1, 25 Vitamin D THIS IS THE ACTIVE FORMWhat is the inheritance of Familial Hypophosphatemic Rickets? How do you treat? What labs will you see?X-Linked Dominant Defect of phosphate reabsorption in the proximal tubule AND a defect of the kidney to convert 25-Vit D to 1, 25 Vit D. Treat with oral phosphate and avoid hypocalcemia by giving Vitamin D 1, 25. Labs: Normal Calcium, Low Phos, High Alk Phos, normal Vitamin D 25, normal PTH (since calcium is normal)Are ACTH levels high or low in Addison's?HIGH ACTHAre Addison's patients Aldosterone sufficient or insufficient? What effect does this have on electrolytes?Insufficient. Aldosterone is responsible for retaining Sodium and excreting K, so they will have hyperkalemia and hyponatremia.What will happen during a Cosyntropin test in a patient with Addison's?There will NOT be a normal rise in Cortisol since these patients are Adrenal insufficient.In a patient with secondary Adrenal insufficiency what will happen during a Cosyntropin Test?There WILL be an appropriate cortisol responseIn a patient with primary Adrenal insufficiency, there IS hyperkalemia and hyponatremia, why is this not the case in secondary adrenal insufficiency?The Renin-Agniotensin system is intact since the adrenal glands are normal and aldosterone is being producedWhat is the treatment difference between Primary and Secondary Adrenal Insufficiency?Primary: Bad Adrenals means you need Hydrocortisone (to replace Cortisol) and Fludrocortisone (to replace Aldosterone) Secondary: Just fludrocortisone since aldosterone is still produced by an intact R-A system.What are the symptoms and treatment for acute adrenal crisis?Nausea, Vomiting, Malaise, HyperK, Hyponatremia Treat with Saline, Glucose, IV HydrocortisoneWhat does Congenital Adrenal Hyperplasia cause a build up of? Lack of?Note: think of CAH as 21-Hydroxylase Deficiency (not 11-Hydroxylase deficiency) Build up: Androgens Lack of: Cortisol AND AldosteroneWhen screening for CAH on the NBS, what will be elevated?17-hydroxyprogesteroneHow does CAH present?Newborns will show abnormal electrolytes with shock like symptoms that resemble sepsis. Boys will have hyperpigmented scrotums from elevated ACTH being released from the Pituitary. Females will have ambiguous genitaliaWhat is the treatment for CAH?Hydrocrotisone (to replace cortisol) AND Fludrocortisone (to replace aldosterone) Note: this is just like treatment of primary adrenal insufficiency (just like Addison's)Is CAH more likely to be on your differential for girls or boys at birth?Girls, since they will present with ambiguous genitalia (due to the build up of androgens). Males will have normal genitalia since they are already boys!What are the layers of the adrenal and which hormones do they secrete?Glomerulosa: Aldosterone (salty) Fasciculata: Cortisol/Glucocorticoids (sweet) Reticularlis: Sex hormones (sweet and sexy)Does 21 or 11-Hydroxylase deficiency have hypertension?11-Hydroxylase Deficiency This means if a patient has symptoms/labs consistent with CAH and ALSO has HTN, it is 11-Hydroxylase deficiencyWhat are the cardiac associations with Turner Syndrome?Bicuspid aortic valve and aortic coarctationDo patients with Turner syndrome have a uterus?YESWhat type of hypogonadism do Turners patients have? Will the FSH be high or low? Why?HYPERgonadotropic Hypogonadism Remember, they will have streak ovaries which means that FSH will be in overdrive trying to stimulate the ovaries. FSH will be high in Turners because of this!Will Klinefelter's have gynecomastia?YesIn severely symptomatic hypoglycemia, how much glucose should you administer?Infants/Young Children: 2cc/kg of D10 (max of 500cc which is 50g of Dextrose) Adolescents: 0.5-1 ampule of D50 (12.5-25 grams of dextrose) % Solutions refer to grams/100cc, for example D50 refers to 50 grams of dextrose per 100cc of water. So 50cc ampule of D50 contains 25 grams of dextroseWhat are some key differences between DKA and HHS?HHS will have minimal acidosis and do NOT require early insulin administration since there is minimal ketosis. Can treat with IV hydration alone.What are the absolute and relative contraindications to OCPs?Absolute: Pregnancy, liver disease, hyperlipidemia, breast cancers, and breastfeeding <6 weeks Relative: HTNWhen is AFP screening offered? What kinds of conditions will have High vs. Low AFP levels? Next steps?16 weeks If AFP is elevated, there is likely some sort of defect in which the baby's skin is broken (neural tube defect, gastroschisis, abd wall defects, fetal demise, renal anomalies) If low, associated with Down Syndrome (low AFP = down) Next steps: fetal US, if negative get amniocentesis to get amniotic AFP levelsWhat and when is Chorionic Villus Sampling (CVS)?Fetal karyotype at 12 weeks Early detection for genetic abnormalities, NOT for neural tube defect concerns. "CHROMOSOMIC" Villus Sampling. Standing outside CVS at midnight, throwing a dozen eggs at CVS in anger.What/when is an Amniocentesis performed?May be performed at 12 weeks for high suspicion or concern. Can be for BOTH Chromosomic AND Neural Tube defects.What is the pattern of tests on the maternal serum triple/quadruple screen that you would see in Down Syndrome?LOW AFP: Low = Down Low Unconjugated EstrioL = "estrioLOW" High HCG subunit High inhibit AWhat is Lymphogranuloma Venereum caused by? Symptoms? Treatment?Caused by Chlamydia (usually in the tropics) Starts with small, nontender papules or shallow ulcers that resolve. Then present with tender inguinal lymph nodes that can rupture and drain for months.What is the treatment for Chylamyia Conjunctivits?ORAL Erythromycin (to eradicate nasopharyngeal colonization, which can lead to PNA)Do you co-treat with Gonorrhea or Chlamydial infections?Gonorrhea (CTX x1, Azithro x1) (this is because Chylamydia is more common, therefore you should just treat it as well)Strawberry cervix is a classic sign for what?Trichomonas Vaginalis Will also have yellow-green discharge, bubbly, frothy, motile flagella with a pH >4.5 (like Gardernella)Is vaginal discharge at birth normal?Yes. If its just pink or white, then its normal. If it is overt bleeding with petechiae, consider Vitamin K deficiencyWhat is the presentation of C1 Esterase deficiency?Recurrent episodes of swelling/edema, and abdominal pain WITHOUT pruritis.Is Milk Protein Allergy IgE mediated? What are the symptoms and treatment?YES, it is IgE mediated (just like a peanut allergy, but with milk. You CAN get anaphylaxis) Can have GI symptoms (vomiting, diarrhea, GI bleeding) and extraintestinal symptoms Treatment: Hydrolyzed milk (NOT Soy due to some cross-reactivity), also asking mother to discontinue ingestion of milk products.Both Food Protein Induced Enteropathy and Food Protein Induced Colitis are NON-IgE mediated processes. How else are they similar/different? Symptoms?BOTH NOT IgE MEDIATED Both have symptoms when exposed to whole formula protein or if breastfeeding moms have high whole protein. Clears are fine. ENTEROPATHY will have failure to thrive. COLITIS will have bloody stools without FTT. Both are treated with hydrolyzed formula and maturing of the GI tractWhat age is Lactose Intolerance unlikely? What are symptoms?Unlikely <5 Diarrhea +/- abdominal pain CONSIDER SOMETHING ELSE if stool is malodorus has food particles, has emesis, or rash.What are the 4 types of hypersensitivity reactions?1 = A = Anaphylactic (IgE) 2 = B = antiBody = humoral 3= C = immune Complex 4 = D = DelayedWhat are the presenting symptoms and treatment of serum sickness?Arthritis, arthralgias, nephritis, rash within 1-2 weeks of exposure to an offending agent such as cefaclor, amoxicillin, minocycline, or anti-venom. Remove offending agent, use anti-histamines for pruritis/rash, NSAIDs for fever, steroids for severe symptomsThere are 4 types of immunity. How do you test the functionality of each? Humoral Cellular Phagocytic ComplementHumoral: Isohemagglutinins and/or serum IgG (antibody tests) Cellular: Candida Delayed-type hypersensitivity intradermal testing Phagocytic: Nitroblue Tetrazolium dye (for Chronic Granulomatous Disease) Completement: Complement Assay (Complement 50)What defines neutropenia in 12 month old and older children?<1 year of age: ANC <1000 Older than 1 year: <1500How do you differentiate between Glycogen Storage Disease and Fatty Acid Oxidation Disorders?BOTH will have hypoglycemia Glycogen Storage Disease can have ketonuria Fatty Acid Oxidation Disorders CANNOT have ketonuriaTrisomy 13 and 18 both can have similar congenital anomalies (rocker bottom feet, clenched hands, etc). How can you differentiate the two?Trisomy 13 will also have aplasia cutis and midline defects*PBR Mnemonic* Bruton's Agammaglobulinemia, does it have lymphadenopathy? What about PCP risk?No LAD, no PCP PNA risk "Use BRUT aftershave so you can have a smooth face and neck. Imagine a masculine man using BRUT aftershave. He has a smooth face, but also just cut himself bleeding. He's bleeding but can't see a doctor because he doesn't have a PCP"*PBR Mnemonic* SCID, does it have lymphadenopathy? What about PCP risk?No LAD, does have PCP PNA risk "You can SCID across SMOOTH surfaces" Just know it has PCP risk*PBR Mnemonic* Which of the following have PCP PNA risk? Bruton's SCID Hyper IgMSCID and Hyper IgM "Imagine a HYPER naked preschooler running all over the gravel yard. He's being chased by a teacher when he SCIDS. He does a running split and destroys his NADS/NODES. Mom has to come take him to his PCP to get him checked out. Destruction of NADS represents lack of NODES.What kind of deficiency is seen in SCID? What is the hallmark lab finding?COMBINED T&B cell deficiency Hallmark lab finding is lymphopeniaDo SCID patients have lymphadenopathy? What about a thymus?No LAD Yes Thymus (presence of Thymus means they can get a BMT!)Can SCID patients receive live vaccines?NOWhat kind of deficiency is seen in Wiskott Aldrich? (aka wiXotT ostrich)COMBINED T&B Cell deficiencyWhat is the inheritance of Wiskott Aldrich? (aka wiXotT ostrich)X-Linked, only males can get it!What is the classic triad of Wiskott Aldrich (aka wiXotT ostrich)?Small Thrombocytes, frequent Infections, and Eczema (TIE)How does Wiskott Aldrich (aka wiXotT ostrich) present?Petechiae, bloody diarrhea, bloody circumcision, eczema, otitis media*PBR Mnemonic* How do you remember Wiskott Aldrich (aka wiXotT ostrich)? Inheritance? Triad? What about IgM and IgA levels?Imagine a WISe OSTRICH wearing a tie with "TIE" doen the front. X for X-linked small T represents small platelets (low MPV) and Thrombocytopenia I represents infections E represents eczema Mirrored W = M, and shows that IgM is low. Duplicate A with arrow shows that IgA is highDo Wiskott Aldrich and SCID have lymphadenopathy/nodes?NO Remember the Skidding Ostrich have no NADS/NODESWhat kind of deficiency is seen in DiGeorge Syndrome?Due to an aplastic/absent Thymus, there may not be any T-Cells. If there are no T-Cells, antigens are not being presented to B-Cells, so they are unable to make antibodies. This results in similar infections to SCID because its essentially a combined T&B cell disorderWill a BMT help in DiGeorge?No, because there is no ThymusWhich organ is required for BMT? Do patients with SCID, Wiskott Aldridge, and DiGeorge have a Thymus?SCID: Yes Wiskott Aldrich: Yes DiGeorge: NoWhat is the CATCH-22 mnemonic for DiGeorge Syndrome?What is the inheritance of Ataxia Telangiectasia?Autosomal RecessiveWhat are the symptoms of Ataxia Telangiectasia?Cerebellar Ataxia, visual motor disturbances, telangiectasias (especially on sclera), immune deficiency, cognitive defects Usually have recurrent PNA or sinusitis + High AFPWhat kind of immune deficiency is Ataxia Telangiectasia?T-Cell deficiency*PBR mnemonic* How do you remember Ataxia Telangiectasia?Ataxia = unsteady gait = imagine a homeless, drunk, and wheelchair bound teen (for neural tube defects) who comes to your ED for recurrent pneumonias or sinusitisWhat is the defect in Common Variable Immune Deficiency (CVID)?B-cells fail to transform into plasma cells, results in deficiency of all Ig subtypes Can also have T-cell membrane defectsWhat are the symptoms of Common Variable Immune Deficiency (CVID)?Recurrent upper and lower respiratory tract infections Recurrent Herpes/Zoster infectionsWhat is the treatment of Common Variable Immune Deficiency (CVID)?IVIG, in an effort to raise the patient's level of antibodies to "normal"What is the deficiency in Hyper IgM syndrome? What will you see in labs?IgM does not switch to IgG due to missing signal from T-cells to B-cells. There will be LymphoCYTOSIS and Neutropenia. This is because lymphocytes are in overdrive trying to release more IgM to compensate for no other Igs. THe neutropenia is RELATIVE given the high amount of lymphocytes. Note: this is a T cell abnormality (because the T cell should be priming the signal), but results in a functional B cell deficiency.What age does SCID present?Closer to 3 months of ageWhen do B-Cell deficiencies generally present?Around 6 months of age (around the same age when mother's immunoglobulins/antibodies between to wane)What kind of pathogens are generally implicated in infections of B-Cell immunodeficiencies?Bacterial/Encapsulated organisms (H. flu, Neisseria, Strep, Klebsiella, Salmonella, Cryptococcus, Pseudomonas) Note: there are not as many viral or fungal infections seen in comparison to T-cell deficienciesWhat is the inheritance of Bruton's Agammaglobulinemia?X-Linked Seen in BOYS (remember BRUT aftershave?) Also B cell deficientWhen does Bruton Agammaglobulinemia usually present?6 months, because it is B-Cell deficiency (when maternal Ig wane)What kind of deficiency is Bruton Agammaglobulinemia?B-Cell DeficiencyAre you at risk for PCP PNA if you have Bruton Agammaglobulinemia?NO Remember BRUT aftershave man does NOT have a PCPIs complement intact in Bruton Agammaglobulinemia?Yes. This will often be compared to C1-C4 Complement deficiency, which will present similarly but with low complementWhat kinds of infections do patients with IgA deficiency get?Sinopulmonary infectionsWhat is the inheritance of Hyper IgE syndrome?Autosomal DominantWhat is the defect in Hyper IgE syndrome?High IgE levels and impaired neutrophil chemotaxisWhat is the triad/symptoms of Hyper IgE syndrome?Eosinophilia + Eczema (first week of life is possible!) + Elevated levels of IgE Can also have recurrent sinopulmonary ifections with "cold" Staph infections (cold because of no neutrophil chemotaxis) Can also have delayed shedding of primary dentition tEEEth and say Hyper IgEEEEEEEEE*PBR mnemonic* What are the conditions with low complement levels?-Post Strep Glomerulonephritis -Lupus -Cryoglobulinemia -Hepatitis C (it causes Cryoglobulinemia) -Mebranoproliferative Glomerulonephritis -Multiple Myeloma -Sjogren's Syndrome Imagine you are at a circus and they ask for a personal item. You hand them a compliment card you plan to mail to your favorite restaurant. Its in an envelope with a STRIPED POSTAGE STAMP on it. In a magician's hand it starts BURNING UP and flames are shooting off it. The Magician throws the card through a LOOPS OF FIRE at a CRYING GREEN GOBLIN that has two NIPPLE RINGS SHAPED LIKE C's. The goblin gets angry and becomes huge. He approaches the audience and stomps on a ground of visiting MEMBERS OF PARLIAMENT wearing gray wigs who were quietly watching the show. The only way to appease the green goblin is to keep giving him green M AND Ms until his CHEEKS/PAROTIDS are so full they are ready to pop. Striped postage stamp = Post Strep Glomerulonephritis Burning up = reminder that complement is decreased Loop of Fire = Lupus Crying Green Goblin = Cryoglobulinemia Nipple Rings Shaped like C's = Hep C Members of Parliament = Membranoproliferative Glomerulonephritis M&Ms = Multiple Myeloma Full Cheeks = Sjogren'sWhat is the inheritance of Chronic Granulomatous Disease?X-Linked recessive Think ChroniX GranulomatuX DiseaseWhat is the deficiency in Chronic Granulomatous Disease?Deficiency of an enzyme within Neutrophils to destroy cell walls and aid in phagocytosis. Susceptible to infections that are catalase positive. (SERRATIA is a big one tested).How do you diagnose Chronic Granulomatous Disease?Dihydrorhodamine Fluorescence (DHR) followed by Nitroblue Tetrazolium (NBT) dye test NEUTROphil disorder = NEUTROBLUE testWhat is the deficiency in Leukocyte Adhesion Deficiency? What will you see on labs? How do you diagnose?Adhesion defect results in neutrophils being unable to leave the vasculature to get to infected areas. Leukocytosis (because all the neutrophils are in the blood still) with neutrophilia Diagnose with Rebuck Skin Window or CD11/CD18 flow cytometryHow long will patients with Leukocyte Adhesion Deficiency live? What is curative?Will die by 1 months of age unless they get a bone marrow transplant.What is the defect in Chediak Higashi Syndrome?Neutropenia, poor neutrophil chemotaxis, and platele dysfunction. You will see neutrophils with giant lysosomal granules on biopsy.What is the presentation of Chediak Higashi Syndrome?Oculocutaneous Albinism and frequent skin/lung infections with staph/strep. Can also have neurologic dysfunctionHyper IgM and Chediak Higashi both have Neutropenia, how do you distinguish them?Hyper IgM also has LYMPHOCYTOSISWhat is the inheritance of Shwachman-Diamond Syndrome?Autosomal RecessiveWhat are the classic findings and presentation of Shwachman-Diamond Syndrome?Bone Marrow Failure, pancreatic insufficiency, bone/skeletal abnormalities, and possible neutrophil defects. Recurrent bacterial infections are common, as are skin, otitis media, and sinus infections.Both CF and Shwachman-Diamond Syndrome have pancreatic insufficiency. How can you differentiate between them?Shwachman-Diamond Syndrome has cell line issues, CF has lung involvementWhat is the defect in Diamond-Blackfan Anemia?Pure RED CELL aplasia Red cells are macrocytic, anemia is severe.What are the symptoms of Diamond-Blackfan Anemia?Severe anemia (due to pure red cell aplasia), triphalangeal thumbs, craniofacial anomalies SHORT WEBBED NECKTreatment for Diamond-Blackfan Anemia?Steroids chronically, transfusions for severe anemiaCan a patient with anemia and signs of hemolysis be diagnosed with Diamond-Blackfran Anemia?No. Since there is red cell aplasia, the anemia is from a lack of production, NOT hemolysisWhat are the EKG changes in Hypokalemia?Prolonged QT, flattened T-waves, ST segment depression, U waves, PVCsWhat are the EKG changes in Hyperkalemia?Peaked T waves, flat P waves, widened QRS, Ventricular Tachycardia.What are the EKG changes in Hypercalcemia?Shortens ST segment, also shortens QT interval. T wave may be widenedWhat are the EKG changes in Hypomagnesemia?Prolonged QT and prolonged PRWhat are the EKG changes in hypernatremia?NONE. Sodium has no EKG changes.*PBR mnemonic* What are the electrolytes/drugs that can cause long QT?MELT PC's because they take too LONG! Buy and Apple instead. Magnesium Erythromycin Levofloxacin TCA's Potassium Calcium can result in a LONG QTGenerally speaking, do low levels of electrolytes cause fast or slow intervals?LOW electrolytes result in a sLOW intervalWhat arrhythmia can babies born to mothers with SLE develop?3rd degree heart block (independent P waves and QRS camplexes)What will you hear on exam with an ASD?Fixed Split S2What will you hear on exam with a VSD?LLSB holosystolic murmur with a hyperdynamic precordiumWhat syndromes are associated with VSDs?Cri-du-chat, Trisomy 13, 18, and 21What are the "bad" terms to describe murmurs?Click Harsh Grade III or Loud Diastolic Pansystolic Late Systolic S4 or 4th heart sound S3 or 3rd heart sound that remains after changing positionsWhen during the cardiac cycle do Stenosis murmurs appear?MiddleWhen during the cardiac cycle do Regurgitation murmurs appear?BeginningWhat will you hear with a Mitral Valve Prolapse?Mid-systolic click then Mid-late systolic murmurWhat are the special characteristics of Mitral Valve Prolapse and Hypertrophic Cardiomyopathy?Both murmurs INCREASE with standing or valsalva (aka, maneuvers that decrease preload (for MVP, this is because less preload means the chordae tendinae are more lax and have more room to snap, and in HCOM there is more snapping of the mitral valve against the hypertrophied septum) Both DECREASE with squatting (because this increases preload more than it increased afterload)How can you differentiate between Mitral Valve Prolapse and Hypertrophic Cardiomyopathy? (there are two ways)-Only MVP murmurs are preceded by a CLICK -Hand grip maneuver increased MVP murmur and diminishes HOCM *Mnemonic* think about the crowd getting loud for Justin Verlander when he hand grips the baseballHow do the following maneuvers effect preload/afterload? Standing Valsalva Hand Grip SquattingStanding/Valsalva: both decrease preload (decreased venous return to the heart/more pressure in chest cavity = less preload) Hand Grip: increase afterload and preload (increased vascular resistance in arm does both) Squatting: increase afterload and BIG increase in preloadWhat are the main murmurs of the right upper sternal border?Aortic StenosisWhat are the main murmurs of the left upper sternal border?Pulmonary Stenosis ASDWhat are the main murmurs of the left lower sternal border?VSD Still's murmur (musical, mid-systolic, diminish with standing) HOCM Tricuspid StenosisWhat are the main murmurs of the apical region?Mitral Stenosis Mitral Regurgitation Aortic Regurgitation (BOUNDING pulses)What are the main murmurs of the left subclavicular region?PDAAortic Regurgitation is associated with which region and what characteristic finding?Apical, early diastolic BOUNDING PULSESWhat are the continuous murmurs?Venous Hum (right subclavicular) PDA (left subclavicular)What should you think of when you hear "Fixed Split S2"ASD (occurs due to persistent L-->R shunting, which results in persistently higher volumes across the pulmonary valve, thus delayed closure)*PBR mnemonic* What are the cyanotic congenital heart lesions?What is truncus arteriosus?Single trunk coming off the ventricular chambers Will see Biventricular Hypertrophy Associated with DiGeorge (so get a FISH)When will Transposition of the Great Arteries present?Within hours. If there is cardiac cyanosis on DOL 1, it is probably TGAWhat is the treatment of TGA?Create an ASD (Rashkind procedure) to allow for mixing Create a PDA by giving PGEWhat is the CXR of TGA?"Egg on a string"What are the 4 defects in Tetralogy of Fallot?1) Pulmonary Stenosis 2) RVH 3) Overriding Aorta 4) VSDWhat is the murmur in Tetralogy of Fallot? Describe how it sounds.Pulmonic Stenosis LUSB murmur with possibly a clickWhy is there R to L shunting in tetralogy of fallot?There is a VSD, but the pulmonic stenosis creates a pressure gradient that creates R to L shuntingWhat is the CXR finding in TAPVR?SnowmanWhat is the treatment for TAPVR?PFO/ASD needs to be created unless it is not compatible with life *mnemonic* imagine your entire hand reaching inside the chest of a SNOWMAN and ripping open an ASDWhat pathogen causes Rheumatic Fever?GAS aka Strep PyogenesHow is Rheumatic Fever diagnosed?Prior history of GAS infection 2 Major Jones 1 Major, 2 minor Jones Prior history of Rheumatic Fever with 3 minor JonesWhy are ASO titers superior to strep screens/cultures?Correlate better with recent infection and strep tests can be positive in carriersWhat are the major and minor Jones criteria for Acute Rheumatic Fever?What is erythema marginatum associated with?Rheumatic FeverWhat is the treatment of Acute Rheumatic Fever?Penicillin VK PO x10 Days or Benzathine Penicillin IV/IV x1 If evidence of carditis, also given ASA and PrednisoneWhat should you do prophylactically if someone has rheumatic fever?Month injections of PCN to prevent GAS pharyngitis, can be discontinued after 21 years of ageWhat is the most common murmur in Rheumatic Fever?Mitral Regurgitation (harsh, systolic, apical murmur)Is ANA positive or negative in Kawasaki's?NegativeWhat are the most common pathogens implicated in Bacterial Endocarditis?ACUTE: Staph Aureus SUBACUTE: Strep Viridans If prosthetic valve: Staph EpiWhat is the treatment of Endocarditis?Native Valve Empiric: Amp/Gent (think Nativity = baby sepsis tx) Strep: Appropriate single agent x4 weeks or Amp/Gent x2 weeks Staph: Appropriate single agent MRSA: Vanc/Gent +/- Rifampin Prosthetic Valve If <2 months since placement, emergent surgery >2 moths, treat for likely Staph (Epi or Aureus) +/- synergistic Gent/RifampinWhat kinds of cardiac conditions necessitate endocarditis prophylaxis? Why?All VALVE repairs need future lifelong prophylaxis because endotheliazation will NOT occur in those areas. Other cardiac procedures like ASD/VSD repairs will be covered in endothelium in 2-4 months, and require 6 months of prophylaxis unless there is a residual defect.What is adequate endocarditis prophylaxis?Amoxicillin 1 hour prior to high risk procedures, dental procedures (including cleanings), bronchoscopy, and infected skin. NOT needed for GI/GU procedures.What is a non-cardiac etiology of Early Onset CHF?In addition to heart lesions, consider a Great Vein of Galen Malformation (intracranial AVM that results in a murmur of the skull).What is the inheritance of Hypertrophic Cardiomyopathy?Autosomal DominantWhat standing to do the murmur of HOCM?Makes it louder (due to decreased pre-load, more snap of mitral valve against hypertrophied septum)What does valsalva do to the murmur of HOCM?Makes it louder (due to decreased pre-load, more snap of mitral valve against hypertrophied septum)What does squatting do to the murmur of HOCM?Makes it softer (increased preload causes less snap of mitral valve against septum) Note: Squatting DOES increase afterload, but it REALLY increases preloadHypertrophic cardiomyopathy is seen more commonly in what syndrome?Noonan SyndromeWhat is the differential for hypertension?Cushing's 17-OH Deficiency Pheochromocytoma Hyperaldosteronism Lupus Renal Artery Stenosis Polycystic Kidney Disease VUR CoarctationHow do you treat LDL levels >110? >160?>110: Diet and Exercise alone >160: Lifestyle for 6 months, then escalate if no improvementDescribe nummular eczemacoin shaped eczematous lesions usually on extensor surfaces of extremities. Uniform, without central clearing. Tx with steroidWhat is eczema herpeticum? Treatment?Potentially life-threatening disseminated HSV infection occurring at sites of skin damage, including eczema. Look for HSV vesicles + crusted lesions Have a high suspicion for a rash "not improving with steroids and/or abx" Treat by STOPPING steroids and starting acyclovirWhat is pityriasis alba?Hypopigmented areas seen after treating cradle capWhat is Langerhans cell histiocytosis associated with? (think imaging finding and clinical condition)Lytic bone lesions (will likely show up as skull lesions) Diabetes InsipidusLangerhans cell histiocytosis and Wiskott Aldrich both have eczema (or an eczematous appearance), and possibly petechiae. How can you differentiate the two?LCH is PAPULAR with associated petechiae, also has association with Diabetes Insipidus. Wiskott Aldrich is truly eczemaWhat is the treatment for Keratosis Pilaris?No treatment necessary. It's just an overgrowth of horny skin and can look like eczema with an erythematous base.What are you thinking of when a chronic, dry, inflammatory, and white scaly rash is described in the genital area?Lichen SclerosusWhat is Lichen Striatus?Rash that looks like eczema, but is linear or papular and can follow the lines of BlashkoWhat should you be thinking of when you hear: RASH + ALOPECIA + NEUROLOGIC SIGNS (ataxia, coma, etc)Biotin/Biotinidase Deficiency Treat with Biotin, may also have lactic acidosis *PBR mnemonic* Imagine the TIN MAN (biotin) from wizard of oz walking with an ATAXIC gait as he SCRATCHES (rash) his smooth, tin arm without hair (alopecia)What is Ichthyosis Vulgaris? Treatment?Rash that resembles fish scales in atopic dermatitis patients. Can treat with ammonium lactate or alpha-hydroxy-acid containing agentsWhat is the difference between Lamellar Ichthyosis and Harlequin Ichthyosis?Both are newborn skin conditions Lamellar: thin, transparent film noted all over body with missing eyelashes and everted eyelids Harlequin: Harder, more armor-like. Poor outcomes.What is Pyoderma Gangrenosum? How do you treat it?Deep, bluish, necrotic ulcers associated with systemic disease such as Crohn's. Treat with corticosteroidsRingworm and Granulma Annulare both have annular lesions. How can you tell them apart?Granuloma Annulare (pictured) has NO SCALINGWhat are the skin findings in Dermatomyositis? Other symptoms?Heliotropic, violaceous rash in malar area. Gottron's papules (pictured), which are erythematous, shiny, pruritic papules over the metacarpals may be presents. Will have proximal muscle weakness and telangiectasias near the nail folds. Can also have Calcinosis Cutis.How do you diagnose Dermatomyositis?Muscle Biopsy CK WILL BE HIGHWhat is the diagnostic criteria to distinguish SJS and TEN?Ten is the diagnosis of >30% of the body is involved.What are some of the skin findings of SJS/TEN?Severe blistering with +Nikolsky sign Skin lesions that may look like a bullseye or target lesion, with center described as DARK, DUSKY, or VIOLACEOUS.Describe the typical spread of Erythema Multiforme lesions.Usually starts on hands or feed THEN progresses to trunkWhat is the mucosal involvement of SJS/TEN vs. Erythema Multiforme?SJS/TEN is usually on at least 2 mucosal surfaces EM is usually on 0-1 mucosal surfaceWhat are the symptoms of Neonatal Lupus? How to diagnose? (Also, does the baby actually have lupus?)No, the baby does not have Lupus. Just has fetal exposure to maternal related SLE antibodies. Increased LFTs, petechiae, rash (pictured), scaling, thrombocytopenia, 3rd degree AV block with bradycardia, hydrops fetalis. Diagnose with maternal Anti-Ro or Anti-LaWhat are the rashes with central clearing? What about central darkening?Central Clearing: Urticaria, Erythema marginatum, Tinea Central Darkening: SJS/TEN, Brown recluse bite, LymeWhat are the skin findings of Scleroderma? Treatment?Thickened skin, with ivory/waxy appearance. Affects females more. Skin often hard and have a linear appearance. Treatment: topical lubricants vs. steroids or other immunosuppressivesWhat are dermoid/epidermoid cysts? Should they be removed?Saclike growths present at birth. Can grow hair and teeth, often associated with tufts or sinuses. Can get infected so they should be REMOVED.How can you differentiate between Comedonal and Inflammatory Acne?Comedonal is an obstructive process that creates white and black heads. Inflammatory has a RED BASE.What is the treatment for Comedonal Acne?Retinoids +/- Benzoyl Peroxide HOWEVER, these together BID is the wrong answer because they can inactive the other. One should be in the AM, the other in the PMWhat is the treatment for Inflammatory Acne?Minor cases: Topical treatments (benzoyl peroxide, clindamycin, erythromycin) Severe cases: Oral abx (tetracycline, doxycycline, erythromycin, minocycline). If all else fails, ISOTRETINOIN.Apthous Ulcers can be seen in which conditions?Behcet's, Shwachman-DiamondWhat are peg teeth associated with?Incontinentia Pigmenti and hypoidrotic Ectodermal dysplasiaWhat is PHACES syndrome?Large hemangioma in the face/neck area PLUS one of the following: Posterior fossa malformation (Dandy Walker) Hemangioma often in the distribution of facial nerve. Look for a large SEGMENTAL hemangioma on the face. Arterial cerebrovascular anomaly (including strokes) Cardiac anomalies (especially coarctation) Eye anomalies (microphthalmia, strabismus) Sternal defectPicture of PHACES syndrome appearanceWhat is the natural time course of port wine stains (aka nevus flammeus)?Capillary malformations that tend to be unilateral. Start as pink/flat that become dark purple. Progress to being thick and raised.What isolated condition can port wine stains (nevus flammeus) be associated with if noted on the face?Glaucoma Is this why Gorbachev wore glasses? Because of his giant flame on his head?What is Sturge Weber Syndrome?Port Wine Stain (aka nevus flammeus) Intracranial Vascular Malformation +/- Glaucoma, seizures, cognitive defects Think Sturge Weber, Chris Webber, ESPN Eye= Glaucoma S= Sturge Weber P= Port Wine Stain N= Neurologic symptomsWhat is Klippel Trenaunay Syndrome? aka CRIPPLE TSyndrome associated with AV fistulae which cause skeletal or limb overgrowth with hemihypertrophy and overgrowth of tissues, bones, and soft tissue. Think of CRIPPLE T, they have a CRIPPLING disorder in which they have one HUGE leg that prevents them from getting aroundWhat is Klippel Feil syndrome?syndrome resulting in a torticollis like appearance and results from fused cervical vertebrae. Will have a short, webbed neck, limited range of motion, and possibly other anomalies.What are congenital melanocytic nevi?Moles present at birth or first few months. Benign unless there are more than 3 or >20 cm, then they are at risk for melanoma. Associated with dandy walker syndromeWhat is McCune Albright Syndrome?AKA Polyostotic Fibrous Dysplasia Irregular cafe-au-lait macules Precocious puberty Bone problems (fractures, bowing of arms, cranial deformities) Possibly other endocrine issues like hyperthyroidWhich syndromes should you think of when you see hemihypertrophy on the exam?Beckwith Wiedemann Klippel-Trenaunay Russell Silver ProteusWhat is the inheritance of Tuberous Sclerosis?Autosomal DominantWhat are the findings in Tuberous Sclerosis?Ash leaf spots (need at least 3). Hypopigmented lesions which can be seen with a woods lamp Shagreen patch. Hyperpigmented plaque that can be rough/thick, papular Angiofibromas. Often misdiagnosed as acne Periventricular or cortical tubers. Usually associated with infantile spasms or seizures Cardiac rhabdomyomas. Look for a kid with arrhythmias Renal angiomyolipomaWhat is management of Tuberous Sclerosis aimed at?Management mostly surrounds dealing with seizures, infantile spasms, and arrythmiasWhat is the inheritance of NF-1?Autosomal dominantHow do you diagnose NF-1?Autosomal Dominant condition affecting skin, bones, and nervous system. Need at least TWO of the following: -1st degree relative with disease -Neurofibromas -Lisch Nodules -Optic Nerve Gliomas (this is the nervous system component) -6 REGULAR cafe au lait macules. SIZE DOES MATTER. If prepubertal, >5mm, postpubertal >15mm. 10 years old is a good cutoff. -Scoliosis or bony abnormalities -Axillary or inguinal freckling mnemonic: For NF-1, Skin + Ortho + Neuro issues = S.O.N. this is NF-1Can NF-1 have orthopedic involvement?Yes, they can have scoliosis or other bony abnormalitiesWhat is the inheritance of Incontinentia Pigmenti?X-Linked DominantWhat is incontinentia pigmenti?X-linked Dominant disease that results in DEATH for all MALES before birth. Make sure any living patient with this is female. 4 stages to disorder: Inflammatory vesicular phase Verrucous phase Hyperpigmentation phase along the lines of Blashko Disappearance of hyperpigmentation with atrophy and hypopigmentation. Can also have delayed dentition, intellectual disability, paralysis, PEG teeth, and seizures *mnemonic* As women age, they tend to become more INCONTINENT (female). Imagine a WOMAN having a SEIZURE. She becomes INCONTINENT of urine, which streams down her PEG (peg teeth) leg and creates black and white LINEAR SKIN LESIONS.What is hypohidrotic ectodermal dysplasia?Related to Incontinentia Pigmenti, but can occur in boys. Associated with hypohidrosis, hyperthermia, hypothrichosis, sparse hair, delayed tooth eruption, and peg teeth.Is there desquamation with perianal or genital strep infections?NoHow do you differentiate between Staph Scaled Skin Syndrome and SJS/TEN?SSSS (pictured) has a "sheet like" skin separation, may be AROUND the eyes and mouth, but SJS/TEN will more likely be IN the eyes/mouth. Obtain a biopsy to prove that this is SSSS, not SJS/TENWhat is the most likely pathogen in a premature baby with a skin infection?Staph epidermidisHow will Tinea Corporis be described on exam?Thin, circular lesion with THIN scales and a RAISED border. Central clearing noted.Does tinea versicolor have hyper or hypopigmented macules?Could be either! Treat with topical selenium sulfide or oral antifungals, NOT oral griseofulvin (that's for T. capitis)How will Pityriasis Rosea be described?Oval, parallel lesions with THICK scales. Will have herald patch with subsequent christmas tree patternWhen should you be thinking about sexual abuse in the context of Condyloma Acuminata?After 3 years of age. Before 3, it can still be a result of maternal-fetal transmission.What is the treatment for scabies and lice?Permethrin at time of diagnosis and AGAIN at 7-10 days later due to egg hatching during this timeframe.What is erythema nodosum and the associated conditions?Painful, shiny, red to bluish skin lesions in a pt with a history of chronic disease or on certain meds. CUDIS Crohn's Ulcerative Colitis Drugs (oral contraceptives and sulfa) Infections (yersinia, EBV, TB, fungal) SarcoidosisWhat is Erythema Chronicum Migrans? When does it appear?"Bulls Eye" rash from Lyme Described as large, flat, annular, with a red border. Appears 1-2 weeks after tick bite.When do you treat Lyme Disease with oral vs. IV medications?Oral: acute arthritis, disseminated erythema migrans, bell's palsy, or neuropathy. Can use doxycycline if >8 or PCN/Amox if <8 IV: Carditis, neuritis (encephalitis/meningitis), RECURRENT arthritis, IV PCN or CTXHow do you diagnose Lyme's?Lyme antibody titers as screen, confirm with Western Blot.Which infections are the Jarisch Herxheimer reaction associated with?Classically syphilis, but also lymeWhat is the Lyme Triad for more severe disease?Carditis, Arthritis (especially recurrent), Neuritis (encephalitis, meningitis) Think of squeezing Lymes into a CANHow do you diagnose Parvovirus/Erythema Infectiosum/5ths disease?IgM titersWhat is Miliaria Rubra?Heat RashWhat is milia?Small, pearly inclusion cysts like little white heads. NO ASSOCIATED ERYTHEMAWhat is sebaceous hyperplasia, how do you distinguish this from milia?pinpoint white-YELLOW papules on face and nose. NO ASSOCIATED ERYTHEMA. Due to maternal androgen exposure, benign. Milia is just whiteWhat is the natural time course of Erythema Toxicum?Presents around day of life 2, resolves by DOL 7If an African American is pictured, is it lice?NoWhat is Transient Neonatal Pustular Melanosis?More common in african americans and people of color. Benign rash with NO associated erythema. Starts in utero and is present at birth. Resolves in a few days but can leave hyperpigmented macules. Can diagnose by seeing PMNs on Tzanck smearWhat is the natural time course of neonatal acne? How does this differ from infantile acne?Neonatal: Occurs within first month of life and resolved by 4 months Infantile: onset around 2-3 months, can be comendonal (white/blackheads). DON'T choose this if baby if 4 weeks old or younger, then it would be neonatalHow is the rash of zinc deficiency described? What other symptoms are associated with it?Scaly, EXTREMELY erythematous in the perioral/perianal area. Sometimes described as erosive and eczematous. Can also be associated with ALOPECIA and poor tasteWhat are the nutritional deficiencies associated with vegans?Iron, Zinc, Calcium, Vitamin B12 Did you know Giraffes are vegetarians? Imagine a giraffe in a cab in times square sticking his head out of the sunroof of a FUZZY CAB that has green, grass-like sweats and fuzzy floor mats. FUZZY CAB = FeZi CaB12What is Acrodermatitis Enteropathica?Autosomal recessive condition where there is a zinc transport defect. Results in alopecia, diarrhea, FTT, and zinc deficiency rashWhat is the treatment for tinea capitis?Oral GriseofulvinWhat are the symptoms of essential fatty acid disorders?Alopecia, scaly dermatitis, thrombocytopenia Imagine a fish whose red SCALES are shaped like HAIRY PLATELETS. As the fish struggles to find food, it becomes SKINNIER and skinnier (malnourished) and the hairy platelets begin to fall off. What's left is a SKINNY (fat free), BALD, and THROMBOCYTOPENIC fishWhy should you get an MRI when you see aplasia cutis congenita?It can be associated with underlying spinal dysraphisms and underlying skull defectsWhat is 50th percentile for weight in a full term baby? What about SGA/LGA?AGA: 3.25kg SGA: <2.50kg LGA: >3.90kgWhat is 50th percentile for length?50cmHow do you differentiate between Macrocephaly and Hydrocephaly?Macrocephaly should not have developmental/neurologic issues. If you see big head at birth + neurologic issues, think Hydrocephaly. If the test mentions a BULGING fontanelle, think hydrocephaly (large fontanelles can be seen in both) Neither should have papilledemaHow do the Vitamin D requirements differ between Breastfed Formula fed CF RicketsBreastfed: 400 IU Formula: Not Required (unless <32oz a day) CF/Rickets: >1600 IUWhat is the primary protein in breast milk? Formula?Breast: Whey (breast milk is WHEY better) Formula: Casein (formula comes in a CASE)How long is frozen breastmilk good for? How soon should it be consumed?3-6 months, consume within 48 hours once thawedWhen should infants get Iron supplementation? Does this apply to breastfed babies?Yes, applies to breastfed. Formula/iron-fortified cereal count Premature: at 2 months Full term: at 4-6 months (once iron stores deplete)What is the inheritance of G6PD Deficiency?X-Linked Recessive. Look for a MALE.What is the natural time course of Colic?3 weeks to 3 months of age, crying and fussy. If older than 4 months, do an aggressive workup.What is a single umbilical artery associated with? What should you do to work it up?Associated with VACTERL, get a renal ultrasoundWhat is VACTERL?Imagine Darth VACTER cutting off his own son's ARM (radial hypoplasia and limb abnormalities) and then using the ARM as a light saber to create ANAL ATRESIA and a TE FISTULAWhat is Russell Silver Syndrome?-Dwarfism -Growth retardation -Hemi-hypertrophy -Clinodactyly (curved finger) -Small chin resulting in a triangular face -hypospadias Mnemonic: Streetfighter named RUSSELL. He has an asymmetric face that is triangular with a small chin. His face is made out of SILVER and is, which makes it easy for him to take punches in a fight. He also has a huge hemi-hypertrophied arm and leg, which make it easy for him to beat people up. He also sprays yellow PEE all over the ground (because of his hypospadias), which makes people slip and fall. He always wins. WhatWhen does Moro disappear?3-6 monthsWhat is the shape drawing by age trajectory?When do babies start cooing?2 months Coo rhymes with twoWhen does social smile start?2 monthsWhen does palmar grasp reflex disappear?2-3 months4 month old developmental milestones Language Gross Motor Fine Motor Cognitive Social-4attle Story highlights: -4 month old with 4attles shirt -Loves 4attle and his mouth -Lifts his head while putting weight on arms -Turns front to back -Turns to sound of rattle -Can grasp rattle well but not reach for it -Smiles, laughs, squeals -Enjoys peek a boo but doesn't play back -Can imitate a stand by bearing weight on feet while held6 month old developmental milestones Language Gross Motor Fine Motor Cognitive Social-"sitting in a high chair" Can REACH now, LOW crawl Story highlights: -Six month old sitting in a high chair -Bangs objects on the high chair table (which is a mirror) -Looks at the mirror and smile when he sees the other baby (not able to recognize self) -Babbles and thinks other baby is talking -Begins to imitate the other baby's speech9 month old developmental milestones Language Gross Motor Fine Motor Cognitive Social-9eek a boo, 9at a cake, 9arachute reflex Non-specific "mama", bangs blocks, parachute reflex, plays peek a boo, stranger danger Story highlights: -9=cat with 9 lives -Curious cat, can recognize objects/people, but scared when approached -Cat says meow non-specifically like a baby says mama -Black cats scared of the baby who is banging blocks together12 month old developmental milestones Language Gross Motor Fine Motor Cognitive SocialSpecific "mama" and "dada", speaks one word. Few apprehensive steps. Drinks cup held by others. Object permanence, follows 1-step commands. Story highlights: -Egg obsessed family (12 for dozen) -Dad has a cup with egg yolks -Baby wants eggs and pulls self to a stand and takes one apprehensive step to drink from the cup held by his dad -Dad has a wig with a perm (object permanence)15 month old developmental milestones Language Gross Motor Fine Motor Cognitive Social-"Pay Check" Taxman Drinks from cup by self. Takes cube from cup. Stacks two cubes. Scribbles. Follows one step commands and knows one body part. Story Highlights: -IRS dude walks into your house on Tax Day (April 15). -Scribble on papers, he GIVES it to you and you TAKE it -Takes a drink from your coffee cup -Takes out a sugar cube and stacks it on another -Picks up your wallet off the floor so he stoops down to get it -Point to your foot and ask him to kiss it -You say "F***" and other 4 letter words -Scream for him to get out (understands even though not pointing) -You crawl upstairs for your daily nap18 month old developmental milestones Language Gross Motor Fine Motor Cognitive Social-18 month old "Voter" 10-15 words, walks up stairs with help (18-24 months), underhand ball toss, feeds self with a spoon. Recognizes self in mirror. Story Highlights: -going to vote upstairs, needs help going upstairs one at a time -Can only speak 10-15 words in the voting area -Has to walk up 4 blocks/cubes -Takes of mittens and looks in mirror -Eats pudding with a spoon -Throws it underhand afterwards -Sweeps it up (simple chores) -Understands 75-100 words of the ballot -Shares a play doll with his parents, which is weird so he's usually playing by himselfWhen does head lag disappear?4 monthsWhen can a baby reach?6 monthsWhen can a baby react, but not play to peek a boo? When do they actually play peek a boo?4 months 9 months actually playingWhen can a baby shake a rattle?4-6 monthsWhen can a baby low crawl?6 monthsWhen can a baby smile at mirror but not recognize itself? When does it recognize itself?6 months (baby sitting in high chair babbling in high chair table mirror) 18 months (baby voting and recognizing self in mirror while taking off mittens)When does a baby non-specifically say "mama" or "dada?"9 monthsWhen can a baby bang two blocks together?9 months (baby banging blocks, thus scaring cat)When can a baby drink from a cup held by someone else? What about by themselves?12 months: egg drink held by dad 15 months: taxman drinking your coffee by himselfWhen is object permanence developed?12 months (egg dad with a wig looking like a perm)When does a baby follow 1 step commands with 1 finger gestures? When does the 1 finger gesture go away?12 months 15-18 months (taxman leaving with you just saying out, not pointing)When does a baby know 1 body part?15 months (yelling at taxman to kiss your foot)When can a baby scribble?15 months (taxman scribbling on paper)When can a baby walk up stairs with help?18-24 months (voting upstairs)When can a baby feed self with spoon?18 months (eating pudding at the voting booth)When does a baby do simple chores?18 months (sweeping up pudding that was thrown)What is normal pupil size?3mmWhat is miosis and what are the substances that can cause it?Miosis is small pupils (2mm or less) "Cops know how to look for small pupils" -Clonidine, Cholinergics -opioids, organophosphates -Phenothiazine, pilocarpine (KNOW THIS CHOLINERGIC), PCP -Sedatives and barbituates Note: PCP can cause dilation or constrictionWhat is mydriasis and what are the substances that cause it?Large pupils (>5mm or more) -Think of how BIG your eyes got the first time you realized AAA savings! -Antihistamine -Antidepressants -Anticholinergics (atropine) -Sympathomimetics (amphetamines, cocaine, PCP) Note: PCP can cause dilation or constrictionWhat are the drugs that can cause nystagmus?Alcohol Lithium Anticonvulsants PCPWhat are the drugs that cause diaphoresis?Sweaty/diaphoretic skin needs SOAP Sympathomimetics Organophosphates Aspirin Phencyclidine2 year old developmental milestones Language Gross Motor Fine Motor Cognitive Social"Terrible Twos" Language: 50-100 words, 2-3 word d phrases. Pronouns with 50% understandable speech Gross Motor: Tosses ball overhead. Climbs up and down stairs 2 feet at a time. Walks backwards. Kicks ball. Runs well. Fine Motor: Drinks from a straw. Stacks 6 cubs. Opens boxes, cabinets, etc. Cognitive: Two step commands. Points to named object or photos. Knows color. Knows name. Verbalizes feeling Social: Parallel play (plays alongside but not with others). Takes turns playing. Story Highlights: -Two year old in terrible twos RUNNING around the house naked TAKING OFF ALL CLOTHES. -Used TWO FEET TO BROAD JUMP over the dog, KICKS food dish and makes a mess. Makes a bigger mess by OPENING CABINETS AND BOXES. -Mom catches him and cries, he COMFORT HER. -He walks up a 6 CUBE (stacking) STAIRS TWO FEET AT A TIME -WASHES hands and knows his BODY PARTS -PUTS ARMS THROUGH SLEEVES AFTERHow do you calculate osmolar gap? What is normal?([Na+]*2 + Glucose/18 +BUN/2.8) Normal is <10What are the substances that cause high osmolar gap?ME DIES Methanol Ethylene Glycol Diuretics Isopropyl Alcohol Ethanol SorbitolHow do you calculate anion gap? What is normal?Na - (Cl + HCO3) Normal is <12What are the conditions/substances that can cause a anion gap metabolic acidosis?CAT MUDPILES Carbon monoxide/Cyanide/CHF Aminoglycosides Theophylline/Toluene (glue) Methanol Uremia DKA Propylene glycol Isoniazid Lactic Acidosis Ethylene Glycol SalicylatesWhen can you give Activated Charcoal?If within 60 minutes of the follow ingestions A, A, A, and an Asthma Medication Anticholingergics Aspirin Acetaminopehn Ashtma med (theophylline)Tylenol Ingestion Q's: -When should tylenol levels be drawn? -When should you treat? -When is too late to treat?-Draw levels at 4 hours post-ingestion -Treat if 4 level dictates NAC. If dose is >150mg/kg (>6 years old) or >200mg/kg in (children <6) then treat -NAC must be given within 8 hoursWhere is Ethylene Glycol found? Methanol?Ethylene Glycol: Antifreeze Methanol: Windshield washer fluidWhat are the symptoms and labs of Ethylene Glycol ingestion?-tachycardia, HTN, acidosis symptoms, hypocalcemia symptoms -Positive anion gap -Positive osmolar gap (usually >20) -Calcium Oxalate crystals (tubular) -Hypocalcemia (from stone formation)What is the treatment for Eythlene Glycol poisoning?Ethanol, Fomepizole, or emergent hemodialysisWill Methanol ingestion have high/low anion/osmolar gap?High osmolar and anion gapAt what age should a child know 50-100 words?2 yearsAt what age should a child be able to throw a ball overhand?2 yearsAt what age should a child be able to walk up and down stairs, two feet per step?2 yearsAt what age should a child be able to drink from a straw?2 yearsAt what age should a child be able to stack 6 cubes?2 yearsWhen does a child -play by themselves -parallel play -play with imaginary friends -play with peersThemselves: 18 months Parallel: 2 years Imaginary: 3 years Peers: 4 years3 year old developmental milestones Language Gross Motor Fine Motor Cognitive SocialLanguage: 3-8 word sentences. Asks short questions. Uses plurals. 75% of speech understandable. Gross Motor: Stands on 1 foot, can hoop. Uses toilet. Walks up stairs with alternating feet. Rides a tricycle Fine Motor: Draws circle and a line. Stacks 8-10 cubes. Button dexterity. Puts on clothes . Holds a glass in one hand. Draws a head. Cognitive. Knows simple adjectives. Can match simple shapes. Knows first and last time. Knows routines. Can ID one color. Uses pronouns Social: Imaginary friend play. Imitates chores and helps. Story Highlights of Crayolo the stool: -3 legged orphaned stool with red crayons for legs (only one color recognition) -CIRCULAR seat (can draw a circle) -Can draw using her crayon legs well, can go up 8-10 stairs with alternating feet. Coming down is scary. -Lives with a 3 year old girl who uses Crayolo to climb up to wash her hands, grab a glass with one hand, or sit on her to eat by herself. -Can also use buttons and put her velcro shoes on. -Crayolo is imaginary to the girl, but loves it!Where is Isopropyl Alcohol found? Symptoms and labs?CNS depressant, may have fruity breath -Will be Ethanol positive WITH KETONES -NO ANION GAP (this is super important because if someone is alcohol positive with no gap, this is the answer. If there is a gap, choose Ethanol, Methanol, or Ethylene Glycol)How can you differentiate between Ethanol, Methanol, Ethylene Glycol, and Isopropyl Alcohol on chemistry and osmolar gap?ALL of them have an elevated osmolar gap ISOPROPYL ALCOHOL DOES NOT HAVE AN ANION GAP (but will have ketones)Which anti-hypertensive should you use for cocaine induced hypertension?NitroprussideWhat does PCP use do to the eyes?Can cause vertical or horizontal nystagmus, lid edema, miosis, mydriasis, or normal pupilsWhy should flumazenil NOT be given in a patient on chronic benzos?It may induce seizuresDoes marijuana cause mydriasis or miosis?MydriasisWhy can you give activated charcoal more than 60 minutes after Anti-Cholinergic ingestion?Anti-cholinergics cause decreased gut motilitySymptoms of TCA overdose? Treatment?Thinks Tri-C-A: -Tri C = Cardiac abnormalities (HR/BP), long QT, Confusions, Acidosis Anticholinergic spectrum with coma, seizures, ANION GAP ACIDOSIS, wide QRS comlex, QT prolongation. Treat with Bicarb. (when you drive your depressed friend around who ODd on TCAs, pump the BASE).What are the lab findings in salicylate ingestion?Initially: Primary Anion Gap metabolic acidosis Later: Primary Respiratory AlkalosisWhat is the treatment for ASA ingestion?Alkalinization of URINEDoes iron ingestion cause anion gap acidosis?YesWhat are the 4 stages of iron overdose?I: Indigestion (N/V/Abd Pain) R: Recovery <3: Cardiovascular collapse and liver damage N: Narrowing of pylorus or other parts of GI tractWhen should lead levels be screened? What levels are of importance to remember? Treatment?12 and 24 months Goal is <5, Danger zone is >45 although 5-20 can still cause neuro deficits Treatment is CHELATION with EDTADoes clonidine cause miosis or mydriasis?MiosisWhat are dystonic reactions treated with?DiphenhydramineWhat are the electrolyte disturbances in Digoxin toxicity?Hypo K Hypo MagWhat are the symptoms of Methemoglobinemia? Treatment?Enzyme deficiency that results in increased methemoglobin levels thus reducing O2 carrying capacity. Blue/cyanotic skin WITHOUT respiratory distress Blood becomes choclate colored with less oxygen. Treat with Methylene BlueWhat is the official name of Vitamin A?RetinolWhat can a deficiency of Vitamin A (Retinol) lead to? Excess?Deficiency: Bitot's spots and blindness Excess: Pseudotumor CerebriWhat is the official name of Vitamin K?PhytonadioneVitamin K is need for which coagulation factors?II, VII, IX, and XWhat is the official name of Vitamin E?TocopherolWhat are the symptoms of Vitamin E (Tocopherol) deficiency?Hemolytic anemia, thrombocytosis, impaired reflexes, jaundice, neuro problems. Think of a patient on TPN.4 year old developmental milestones Language Gross Motor Fine Motor Cognitive SocialLanguage: 3-5 word sentences. 100% intelligible. Rhymes. Asks things like "How, what, where?" Gross motor: Balances longer than 4 seconds on one foot, goes up AND down stairs easily alternating using handrails. Fine Motor: Draws a plus sign, simple stick figure, dresses self. Brushes teeth. Cognitive: Tells story. Tries to bargain. Knows 3-4 colors. Follows 3 step commands. Social: Plays with peers and prefers it. Shares. Enjoys rules. Story highlights: -COMPASS (kids asking where, when, etc) sitting on a stack of SHARED newspapers (shares with strangers) -ARTICLE is about CROSS DRESSING (playing dress up) men who CHEAT (changing rules) on their wives -Compass has 4 needles that look like toothbrushes (brushes teeth). Needles make a CROSS and can come off to be HANDRAILS -STANDS ON ONE FOOT for FOUR SECONDSWhen is speech 50, 75, and 100% intelligible?50%: 2 years 75%: 3 years 100%: 4 yearsWhat is the progression of stair walking?Crawls up stairs: 15 months (crawling up stairs to nap after yelling at taxman) Walks up stairs with help, one step at a time: 18 months (voting upstairs, needs help) Walks up/down TWO steps at a time: 2 years (2 years old) Walks up stairs alternating feet: 3 years old (Crayolo is afraid of heights and can't look down, also has roller skates for feet) Walks up AND down stairs: 4 years old (uses toothbrush handrail)What are the water-soluble B vitamins?The Really Nasty Prince's Booty Farted Constantly Thiamine (B1), Riboflavin (B2) Niacin (B3), Pyridoxine (B6), Biotin (B7), Folate (B9), Cyanocobalamin (B12) 1, 2, 3, 6, 7, 9, 12What are the symptoms of Thiamine (B1) deficiency?Wet Beriberi: High output cardiac failure due to peripheral vasodilation Wernicke Encephalopathy: ataxia, delirium, encephalopathy, neuropathy, nystagmus, which can progress to Korsakoff SyndromeWhat are the symptoms of Riboflavin (B2) deficiency?Anemia, angular stomatitis = cheilosis, glossitis, seborrheic dermatitis Tongue = riboFLAVOR Phototherapy can cause decreased B2 levels Pic: Premature baby with protective glasses for phototherapy. 2 written on them depicts B2. Scalp has seborrhic dermatitis and steep angles at the lips remind you of angular stomatitis. Bleeding to indicated anemia.What are the symptoms of Niacin (B3) deficiency?Results in PELLAGRA Diarrhea, dermatitis, dementia.What are the symptoms of Pyridoxine (B6) deficiency?Neuropathy, rashes, seizures, tongue swelling. Isoniazid can cause B6 deficiency, which is why you give them together for TB treatment.Isoniazid can cause a deficiency of which vitamin?Isoniazid can cause B6 deficiency, which is why you give them together for TB treatment.What are the symptoms of Folate (B9) deficiency? What in the clinical history would be concerning?Macrocytic anemia, glossitis, in pregnant women can lead to neural tube defects. Look for a diet poor in veggies, or, goat milk ingestionWhat are the symptoms of Cyanocobalamin (B12) deficiency?Macrocytic anemia with neurologic deficits. Look for patients who are vegans or have an inability to absorb B12 (pernicious anemia, patients with surgeries or don't have a terminal ileum such as short bowel or IBD.What are the symptoms of Vitamin C deficiency?Scurvy: poor wound healing, skin spots, bleeding gums, bone pain Osteopenia: Brittle bones, fractures.What can a Vitamin C excess lead to?Nephrolithiasis In G6PD patients can cause hemolysisWhat is the difference between Kwashiokor and Marasmus?Kwashiorkor: PROTEIN deficiency. Have pitting edema, large abdomens, hepatomegaly. Think kwashi = cushy. Maramus: Total calorie defici. No edema, thin, anorexic looking.Are congenital hepatic fibrosis and PCKD related? What can it lead to?Yes. Can lead to varices and portal hypertension. This is what JGA hadWhat is Gallbladder Hydrops and its associated conditions?RUQ pain from acute swelling/distention of gallbladder in absence of gallstones. Associated with: -Fasting -HSP -Kawasaki's -Strep Pharyngitis -TPN -Las Vegas STREPPER (GAS) with breasts like giant GREEN WATER BALLOONS (gallbladder), riding a KAWASAKI through a drive through to get a BURGER IN A BAG (TPN). Falls off bike and gets her Butt and LEGS BRUISED (HSP).What is hepatoblastoma and presentation? Labs?-Liver cancer -Abdominal mass by 3 years of age -Elevated AFPWhat is Primary Sclerosing Cholangitis? How to diagnose? Associations?Chronic liver disease resulting from autoimmune inflammation leading to fibrosis of the intrahepatic and extrahepatic biliary tree. Diagnose with cholangiography (ERCP) Ulcerative Colitis and elevated p-ANCAWhat would you expect AST/ALT to be in viral hepatitis? Alcoholic hepatitis?Viral: ALT > AST Alcoholic: AST > ALTHow can you differentiate between Cholestatic disease vs. Hepatocellular jaundice?If you have a patient with jaundice, look at transaminases and alk phos. In hepatocellular disease, there will be transaminitis In cholestatic there will be marked elevation of alk phos5 year old developmental milestones Language Gross Motor Fine Motor Cognitive SocialLanguage: No new additions Gross motor: walks backwards HEEL TO TOE. Skips Fine Motor: has kindergarten school kills. Hold pencil, prints letters. Draws a person with SIX body parts. Ties knot and laces. Cognitive: Names 4-8 colors. Defines words. Tell fantasy from reality. Counts to 10. Social: Plays board games Story Highlights: -Square "hangman" drawing with shoes instead of feet to indicate TIED LACES. -Hangman has 6 body parts, indicated that they can name SIX BODY PARTS -The hangman looks like a school aged kid, they can WALK BACKWARD, SKIP, and PLAY BOARD GAMES. -hangman kid is also reaching out to catch a rainbow and NAME ALL THE COLORSWhat is Alagille Syndrome? AKA Arteriohepatic DysplasiaGenetic disorder in which jaundice is noted in the newborn period. Look for a patient with LIVER and HEART disease. -Intrahepatic biliary atresia/hypoplastic biliary ducts -Pulmonary Stenosis -Triangular Face -Tetralogy of Fallot -Hypercholesterolemia with xanthomas -Eye abnormalities -Acholic stoolsWhich Hepatitis' are transmitted via the fecal-oral route?A and E Remember that there are many Hepatitis' (A, B, C, D, & E). A and E are at the beginning and end of our imaginary GI tract, so those are the two that are fecally-orally transmitted.How do you interpret the following Hepatitis B antibody titer? Positive HBsAg past 6 monthsChronic infectionHow do you interpret the following Hepatitis B antibody titer? Positive HBeAgHigh replication resulting in high viral load and high infectivity. "HBeAg reflects high Enfectivity"How do you interpret the following Hepatitis B antibody titer? Positive anti-HBcWindow Period (but only if everything else is negative)How do you interpret the following Hepatitis B antibody titer? Positive HBsAg and anti-HBcPAST infection (NOT immunization)How do you interpret the following Hepatitis B antibody titer? Positive anti-HBsPrior immunizationWhat is Gilbert's Syndrome?-Autosomal Recessive inheritance -Glucoronyl Transferase Deficiency, therefore impairing bilirubin conjugation ability -Most common cause of indirect hyperbilirubinemia. Mild (<3), common, BENIGN -Hyperbili is intermittent, and is triggered by illness or physiologic stress (dehydration, fasting, vigorous exercise)What is Crigler Najjar Syndrome? What is the difference between Type 1 and Type 2?-Glucoronyl Transferase Deficiency, therefore impairing bilirubin conjugation ability -Causes INDIRECT hyperbili, overall rare -Type 1 has ZERO direct bili because there is a complete lack of Glucuronyl Transferase. Presents within the first few days of life and requires lifetime phototherapy -Type 2 partially exists, so they have some conjugation. Do not need phototherapy.What is Dubin Johnson Syndrome?-DIRECT hyperbili -Benign, relapsing -Most common presentation is a teenager with non-pruritic jaundice, but without other symptoms.For the following, do they they have direct or indirect hyperbili? Which are pathologic vs. benign? Gilbert Crigler Najjar Dubin-JohsonGilbert: Indirect, benign Crigler Najjar: Indirect, pathologic (TYPE 1 NEEDS LIFETIME PHOTOTHERAPY) Dubin-Johson: Direct, benignWhat are some of the physical/lab findings of Reye's Syndrome?-Encephalopathy, possibly coma -Abnormal LFTs, possibly elevated PT, hyperammonemiaWhat is Wilson's disease? Address the following: -Inheritance -Pathology -Symptoms -Labs -Treatment -Family screening-Inheritance: Autosomal Recessive -Pathology: Excess copper accumulation IN TISSSUES, especially brain and liver. -Symptoms: Hepatomegaly, spider nevi, esophageal varices. Tremors, ataxia, abnormal eye movements, spasms. Kayser-Fleischer Ring. -Labs: Coombs Negative Hemolytic Anemia, low serum copper -Diagnosis: Liver biopsy -Treatment: Penicillamine (Copper Chelator) -Screen family members with Ceruloplasmin (copper carrying protein, so this will be LOW if concerning for Wilson's).What should you be thinking of when you see fever, RUQ pain, and jaundice?Cholangitis is highly suspected, this is an emergencyWhat is Zollinger Ellison Syndrome? -How to diagnose? -What else you need to rule out?Condition that results in multiple GI ulcerations due to a gastin tumor of the pancreas. Diagnosed by checking for a high fasting gastrin level If diagnosed need to rule out Multiple Endocrine Neoplasia Type 1 (PPP tumors, Pituitary, Pancreas, Parathyroid)What are the tumors associated with MEN-1?PPP Pituitary Parathyroid PancreasWhat is the workup escalation plan for IBS?Non-invasive testing (CBC, ESR, anti-TTG, stool guaiac) Fiber Trial EGD and/or ColonoscopyWhat is first line treatment for Ulcerative Colitis?First line: 5-ASA (aka Mesalazine or 5-aminosalicylic acid) Second line: Steroids, metronidazole, azathioprine, cyclosporine, methotrexate, tacrolimusIf "Barium Enema" is an answer choice during a UC flare, should you pick it?NO. During flares they are very sensitive to perforationsAssociated with UC or Crohn's? -Skip Lesions -Non-caseating granulomas -Uveitis -Perianal fistulas -Conversion to cancer in the futureCrohn's -Skip Lesions -Non-caseating granulomas -Uveitis -Perianal fistulas Ulcerative Colitis -Conversion to cancer in the futureWill you see anti-Saccharomyces antibodies in UC or Crohn's?Crohn's anti-saCROHNamycesWhat is the age range of presentation for Intussusception?3 months to 36 monthsWhat is the treatment for Intussusception?AIR contrast enemaIf a child is younger than 5 years old, is it Lactose Intolerance?NoWhat are the syndromic associations with Hirschsprung's?Trisomy 21 (think of this when syndromic features + constipation) CF (foul smelling stools + weight loss + constipation)What are the sonographic diagnostic criteria for Pyloric Stenosis?Longer than 14mm, thicker than 4mmWhat is the gold standard for diagnosis of Achalasia?Esophageal ManometryWhat is the presentation and age of annular pancreas?Annular pancreas forms a ring around the intestine. Causes poor swallowing in utero, resulting in polyhydramnios and then vomiting in the neonatal period.What are the conditions associated with a "Double Bubble" sign?-Volvulus due to malrotation -Duodenal atresia -Duodenal webs -Antral websWhat is the presentation of Duodenal Atresia?-Bilious emesis on DOL 1 -Double bubble on KUB -Possibly could have jaundice due to increase enterohepatic circulationWhat is the differential for lower GI bleeding in the neonatal period?-Maternal blood (get APT test which will differentiate the two) -Malrotation with volvulus -NEC (especially preemies)What is the differential for lower GI bleeding at 1-2 years of age?Anal Fissure Intusseception Juvenile PolypWhat is the differential for lower GI bleeding at 2-5 years of age?Meckel's Juvenile PolypWhat is the differential for lower GI bleeding in school aged kids?Meckel's Juvenile Polyp Familial Adenomatous Polypopis Ulcerative Colitis Crohn'sWhat is the differential for painless rectal bleeding?Meckel's Juvenile PolypWhich syndrome are Omphalocele's associated with?Beckwith Wiedemann, various other chromosomal anomaliesMarfan syndrome, Ehlers-Danlos, and Epidermolysis bullosa are all associated with what Esophageal anomaly?Esophageal perforationWhat are some of the causes of rectal prolapse?Constipation CF Trichuris Whipworm ShigellaShould you avoid Sucralafate (aluminum hydroxide) in renal patients?YesWhat is magnesium tocolysis and when should you consider it?Magnesium sulfate infusion in mother for pre-eclampsia can result in severe hypocalcemia that is refractory to calcium gluconate. Consider this if treating a hypocalcemic baby that is not responding as quickly as you would like.What can maternal Terbutaline use cause in a baby?Can cause hypoglycemia in a neonate due to hyperglcyemia in mother.Are ACE inhibitors contraindicated in pregnancy?Yes. Can cause teratogenicity with oligohydramnios, neonatal anuria, and cardiac malforations (especially PDAs)Is Diazepam contraindicated in breastfeeding?YesCan Metoclopramide and Promethazine cause dystonic reactions?Yes, treat with benadryl.What is the key side effect of Cyclophosphamide?Hemorrhagic CystitisWhat is the key side effect of Asparaginase?Pancreatitis Asparagus instead of pancreasWhat is the key side effect of Methotrexate?Ulcers along the GI tractWhat are the key P450 Inhibitors?Fluconazole Isoniazid Sulfonamides H2 Blockers (especially cimetidine) Erythromycin Grapefruit juiceWhat does St. John's Wort and what effect does it have on certain medications?Induces P450, thus increasing metabolism, thus LOWERING effectiveness of: -OCPs -Digoxin -HIV meds -WarfarinWhat meds does Ginseng interact with? What does it do to blood glucose?Interacts with just about everything, decreased blood glucose.What does Ginkgo do to blood glucose? What drugs are associated with increased bleeding risk with Ginkgo?Lower blood sugar Increased bleeding risk when used with aspirin or other clotting drugsDo babies withdraw from maternal cocaine use?NoWhat is Fetal Warfarin Syndrome?-Flat nasal bridge -Hypoplastic nose (possible upper airway obstruction) -Hypoplastic distal phalanges -Stippling of the vertebraeWhat are general things you need to look out for with pre-natal exposure to anti-convulsants?Cardiac Defects, especially Tetraology of Fallot, Aortic Stenosis, Pulmonary Stenosis. Microcephaly, "anticonvulsant facies" (broad nasal bridge, small nostrils, angry look" IUGR Fingernail hypoplasiaWhat is Fetal Hydantoin Syndrome?Secondary to Phenytoin exposure -Finger/nail hypoplasia -Wide anterior fontanelle -Prominent metopic ridge -Wide spaced eyes -Broad nasal bridge -Short nose -Cleft lip/palate "Imagine a baby with PHUNNY TOES and fingerails that first very comfortably into a baby's CLEFT LIP/PALATE"What are the symptoms of fetal exposure to valproic acid?-Small mouth -Small chin -Epicanthal folds -Midface hypoplasia -SPINA BIFIDAWhat are the symptoms of fetal exposure to Carbamazepine?Similar to Valproic Acid exposure -Spinal/facial deformities including Spina BifidaWhat are the symptoms of fetal exposure to Ethanol?Fetal Alcohol Syndrome -SGA -Midface hypoplasia -Thin upper lip -Smooth philtrum -Small 5th fingernail/5th finger clinodactyly (remember the PBR images of Dr. Evil and Mini Me) -ASD/VSD (DO NOT FORGET THE HEART STUFF, think of FAS as 3 letters and ASD/VSD also with 3 letters)What cardiac defect is fetal exposure to Vitamin A associated with?TGAWhat are the effects of fetal exposure to Isoretinoin?Associated with small ears, small eyes, small head, small jaw, small thymus, cardiac defects (like TOF, truncus arteriosus, TGA), and CNS problems -Isoretinoin not only SHRINKS PIMPLES, it also shrinks the head, ears, eyes, and thymusDoes papilledema affect visual acuity?Vision is not affected until there is significant progression, so do NOT rule this out if there is 20/20 visionIs papilledema unilateral or bilateral?BilateralWhat is papillitis?Inflammation of optic disc, will have photophobia, pain, sensitivity to light pressure of eye, and possibly after a viral illness. Choose this answer over papilledema if the finding is unilateral or associated with loss of visual acuity or fieldsWhat are the TWO answers for cataract etiology on the board exam?Galactosemia or RubellaWhen should formal vision screening be performed? What are the expected 20/? ranges?3 years old 3 years: 20/50 4 years: 20/40 5 years: 20/30 (pediatrician should look at fixation preference, ocular alignment, and presence of eye disease at 6 months)What is amblyopia?Structurally normal eye with poor vision. Often occurs when one eye can't see very well. Strabismus patients are at risk for this.Eso/Exotropia are normal up until what age?3 monthsWhen doe babies develop color vision?3 monthsWhat are the Autosomal Dominant Disorders? Don't forget the two important ones NOT in the mnemonic.Imagine a WAR (waardenburg) between two tribes separated by a DAM OF MINTS (autosomal dominant). The first tribe's name is MANNTRRA (more on this below), and the second tribesmen call themselves the WHITE HAIRS. The white hairs lives on an APE-alachian PEAR-shaped mountain (Apert) mountains, and are led by 3 generals. -A-KON, who is a mini-me of Akon (achondroplasia). Sings his song "Down with the MANNTRA". -White man with prominent lips like Mick JAGGER (Peutz-Jegher) -One mexican GARDNER with extra TEETH (Gardner, hyper IgE) WHITE HAIRS and the three generals go HUNTING (Huntington's)for a weak spot in their enemy's dam of moon shaped mints. Their hunting weapon is a TUBULAR bazooka that BlASTS out ASHY LEAVES that have small DANCING TICKS (Tuberus Sclerosis). -Waardenburg (going to WAR) -Apert (APE-alachian PEAR-shaped mountains) -Marfan (MANNTRRA) -Apert (doutble take, MANNTRRA) -Noonan (MANNTRRA) -Nail Patella (MANNTRRA) -Tuberous Sclerosis (MANNTRRA) -Romano Ward (MANNTRRA) -Retinoblastoma (MANNTRR) -Achondroplasia (MANNTRRA + Akon) -Peutz-Jegher (Mick Jagger) -Gardener (Mexican Gardner) -Hyper IgE (tEEth) -Huntingtons (Hunting) Note: -NF-1 -Hypertrophic Cardiomyopathy -Acute intermittent Porphyria -Von WillebrandsWhat is Waardenburg Syndrome? -Inheritance -SymptomsAutosomal Dominant Albinism, white forelock of hair, ocular albinism, heterochromia, deafnessWhat is Apert Syndrome? -Inheritance -SymptomsAutosomal Dominant (APE-alachian PEAR-shaped mountains) Early cranial suture closure with bilateral syndactyly (fused digits). Also may have choanal atresia and cleft palateWhat is Nail Patella Syndrome? -Inheritance -SymptomsAutosomal Dominant (MANNTRRA) Nail and patella abnormalitiesWhat is Noonan Syndrome? -Inheritance -SymptomsAutosomal Dominant (MANNTRRA) Pulmonic Stenosis, pectus excavatum, webbed neck, low set ears, HOCM. Webbed neck and low set ears are common with Turners, so pay attention to karyotype (this will be normal, turner's abnormal) and whether or not it is male or female (this can affect both, turners only female)What is Achondroplasia? -Inheritance -SymptomsAutosomal Dominant 15-20% of the time, but can also be sporadic mutations. (A-kon mini me of Akon) Short, macrocephalic, mild hypotonia, short arms and legs with normal torso. Trident fingers. GENU VARUM deformity. Normal IQ. Can suddenly die from compression of the cervicomedullary junction.What is Peutz-Jeghers Syndrome? -Inheritance -Diagnosis -SymptomsAutosomal Dominant (Mick Jagger General) Family history of disorder, hamartomatous GI polyps, benign hyperpigmented macules on lips or mucosa. Diagnosed with 2 of the 3 criteria. Polyps can lead to intusseception, so should be removed. Cancer risk is increased.What is Gardner Syndrome? -Inheritance -SymptomsAutosomal Dominant (Mexican Gardner general) Subtype of familial adenomatous polyposis. Premalignant polyps seen throughout intestines. Can also have extra teeth and other tumors in body (especially bone)What is the inheritance of Retinoblastoma?Autosomal Dominant with high rate of spontaneous mutations. If they give you information about Chromosome 13 and an eye problem, or if you are given an X-ray of long bone (such as femur, tibia, humerus, radius, or ulna) consider this diagnosisWhat is Acute Intermittent Porphyria? Inheritance Symptoms TreatmentAutosomal Dominant Disorder of heme synthesis that causes symptoms when there is accumulation of a metabolite in the cytoplasm. Can present with abdominal pain, confusion, weakness, headaches. Triggers include infection, low carb intake, and certain meds (seizure/sulfa). Treat with D10 and stop any offending agentsAt what age can Tetracycline and Doxycycline be given? What is the exception?Can be given after 8 If a patient is diagnosed with Rocky Mountain Spotted Fever, you can give it regardless of age.At what age can Fluoroquinolones be given?Ideally after 18 (due to tendon rupture/tendonitis)At what age can Erythromycin be given?Do not give if less than a month due to association with Pyloric StenosisWhat is the Clindamycin coverage profile?Gram positives, MRSA NOT ENTEROCOCCUSWhat are the drugs that cover enterococcus?Ampicillin, Vancomycin, Linezolid NOT COVERED BY CEPHALOSPORINSMost inborn errors of metabolism have autosomal recessive inheritance. What are 2 notable exceptions?Both below are X-Linked! Hunters (X marks the spot) Ornithine transcarbamylase DeficiencyWhat are the autosomal recessive conditions with PBR mnemonic?PAT HAS WACK GAS, which made me HURL in the BACK SEAT of an AUTOmobile. (Pat is an SNL character who is kind of off and would definitely be the one to fart in the back of a car) P = Phenylketonuria (PKU) A = Alpha-1-antitrypsin T = Tay-Sachs Disease H = Hurler's A = Ataxia Telangiectasia S = Sickle Cell/Thalassemias W = Wilsons A = ALPers Syndrome C = Cystic Fibrosis K = Kartagener Syndrome G = Galactosemia A = All the "A" disorders above S = All the "S" disorders above PLUS Johanson Blizzard SyndromeWhat is Alpers syndrome? -Inheritance -SymptomsAutosomal Recessive Progressive neurologic symptoms of -ataxia -cognitive deficits -seizures -Liver DiseaseWhat some pearls of X-Linked DOMINANT disorders? -Specifically, what inheritance pattern rules OUT this inheritance? -What affected family member should make you suspicious?RULED OUT if male to male transmission is seen BE SUSPICIOUS if you see a MATERNAL UNCLE affected Because these are dominant disorders, the inheritance pattern will look similar to autosomal dominant, the key difference being that an X-linked DOMINANT disorder will affect 100% of a male's daughters and NONE of his sons. This is because the affected father only has one X to give daughters and give Y to son, not his affected X.What are the X-linked dominant disorders? (Name 5)Familial Hypophosphatemic Rickets Aicardi Syndrome Alport Syndrome Fragile X Incontinentia PigmentiWhat is Aicardi syndrome? -Inheritance -SymptomsX-Linked Dominant Missing corpus callosum with infantile spasms and epilepsyWhat is Fragile-X syndrome? -Inheritance -SymptomsX-linked dominant Intellectual disability, delayed milestones, social awkwardness, long face with prominent jaw, large ears, macro-orchidism mnemonic: V for long face and chin, X's on the side for large ears, OO for macroorcidismWhat is the inheritance of CGD?X-LinkedIf you see a boy diagnosed with Serratia, what diagnosis should you be thinking of?CGDWhat are the general rules of X-linked recessive inheritance? -Mother carrier Father unaffected -Mother carrier and Father unaffected combo -Mother carrier Father affected-Mother carrier, Father unaffected: Mother is carrier -Mother carrier, Father unaffected: 50% chance of son being affected and 50% chance of daughter being carrier -Mother carrier, Father affected: 50% chance son or daughter being affected Mostly keep your eyes out for MALES being affectedIs there cell line deficiency in in CGD?No. The defect is in the neutrophil itself, where it cannot produce an enzyme that is needed to destroy cell wall and aid in phagocytosis. There is NO ISSUE WITH CELL LINE PRODUCTIONWhat is the inheritance of Duchenne Muscular Dystrophy?X-linked recessiveIs PT or PTT elevated in Hemophilia?PTTWhat is the inheritance of Nephrogenic DI?X-linked RecessiveWhat is the inheritance of Hemophilia?X-linked RecessiveWhat are the symptoms of Trisomy 18?Rocker bottom feet, clenched fists, overlapping fingers, underdeveloped nails, horseshoe kidneys, crossed legs, micrognathia, prominent occiput, pectus excavatum. Cardiac defects such as ASD or VSD. Mnemonic: FrEDDIE Mercury, a rockstar with ROCKER BOTTOM feet, CLENCHING his fist while singing with his HORSESHOE-shaped mustache draped over a micWhat are the symptoms of Trisomy 13?Cardiac defects, cleft lip +/- palate, punched out scalp lesions, polydactyly, low set ears, cystic kidneysWhat is Syndactyly? Clinodactyly?Syndactyly: Fusion of two or more fingers Clinodactyly: Permanent deviation of one or more fingers TIP: ALWAYS look at the pinky finger when a pic of a hand is shownWhat are the syndromes associated with Cleft Lip/Palate?Treacher Collins DiGeorge Syndrome Crouzon Syndrome Apert Pierre Robin Trisomy 13 Your favorite TEACHER (treacher collins) loves animals and the color pink. She's wearing a pink dress as she walks out of her classroom with a PINK PLATE (cleft palate) filled with 13 (trisomy 13) CROUTONS (crouzon) and PEARS (apert). As soon as she puts the plate down, a ROBIN (pierre robin) flies over and a CURIOUS GEORGE (digeorge) shuffles over to eat the yummy food on a PINK PLATE>What are patients with a submucosal cleft palate at risk for?Hearing problems, obtain tympanometry!What are the symptoms of Williams Syndrome? What is the highly suspicious cardiac finding?-Mild intellectual disability -"Cocktail party" personality -Elf-like face -wide spaced teeth -Supravalvular aortic stenosis -Renal artery stenosis -HypercalcemiaWhat is Hold Oram Syndrome?Limb-Cardiac syndrome Upper limb and cardiac defects Absent radius and thumb TRIPLE JOINTED THUMB Septal DefectsWhat is Cri-du-chat syndrome?5p deletion syndrome with a high pitched cry, developmental delay, microcephaly, wide set eyes, high palateWhat is Crouzon Syndrome?Craniosynostosis Prominent forehead Proptosis NO SYNDACTYLY. THIS IS HOW YOU DIFFERENTIATE FROM APERT, which also has craniosynostotis featuresWhat is Angelman's Syndrome? Discuss the concept of imprinting with this syndrome.Male OR female pts "think Angelwoman syndrome" Happy, angelic, laugh frequently developmentally delayed with delayed speech Seizures and ataxia If there is something wrong with maternal copy of chromosome 15 (defective, missing, etc), then TWO copies of paternal copy are present and cause Angelman's. Mnemonic: "Daddy's little angel" to trigger that it is PATERNAL imprintingWhat is Prader-Willi Syndrome? Discuss imprinting in the context of this syndromeHypotonia, almond shaped eyes, HUGE appetite, obesity, small testicles/penis Opposite imprinting of Angelman's, MATERNAL imprintingWhat is Laurence-Moon Syndrome?Similar to Pradi-Willi, but PROGRESSIVE. Associated with incest.What is Beckwith-Wiedemann syndrome?Think LARGE Macroglossia, macrosomia, hemihypertrophy Midline abdominal wall defects (omphalocele, umbilical hernia, hypospadias) Babies will have neonatal hypoglycemia At risk for Wilm's TumorHow do you differentiate between Beckwith Wiedemann and Klippel Trenaunay Syndrome?Port wine stains present in Klippel TrenaunayWhat is Pierre Robin Sequence?Triad of: 1) Cleft Palate 2) Micrognathia 3) Glossoptosis (downward displacement of tongue)What is CHARGE syndrome?Coloboma Heart Defects Atresia (choanal) Retarded Growth Genitourinary abnormalities Ear anomaliesWhat is Cockayne Syndrome?Premature aging Photosensitive skin Growth failure Hearing loss Vision problemsWhat is Rett Syndrome?Regression of developmental milestones and deceleration of growth Microcephaly Breath holding spells and seizures X-Linked disorder but affects GIRLS more than boys "We REgreX to inform you that your child, REX, is REgreXXINg and might REtarded"How do you differentiate between Ehler's Danlos and Marfan's?Both will have joint hypermobility, possible MVP, and aortic dissection ONLY ED WILL HAVE SKIN LAXITY AND EASY BRUISING. Remember, Michael Phelps had perfect skin.What is Homocystinuria?Aminoacidopathy with marfanoid physical features buth with COGNITIVE deficits. DOWNWARD lens displacement (Marfan's is upward). Hypercoagulable, may be DVT history Treat by giving Cysteine (amino acid)What is Prune Belly SyndromeWeak abdominal musculature Undescended or missing testes Urinary tract anomalies with VUR, PUV, renal dysplasia Poor prognosis and often die within monthsWhat are you looking for on bone marrow biopsy to diagnose ALL?>25% blastsWhat has the better prognonsis, Hodgkins or non-Hodginks lymphoma?HODGKINSHow is the diagnosis of Hodgkin's Lymphoma made?Node biopsy with REED STERNBERG CELLSFor a child with lymphadenopathy, what should you be considering for the diagnosis if: -Cancer symptoms with negative PPD -PPD slightly positive 5-10 -Floridly positive PPD 15+Negative PPD: Hodkin's Slightly Positive: Atypical Mycobacteria Floridly positive: TBWhere is Osteosarcoma usually located? WHat kind of X-Ray pattern will you see?Proximal/Distal ends of long bones. Has SUNBURST patternWhat is the X-Ray pattern of Ewing's Sarcoma?Onion SkinWhat is an Osteochondroma?Common and benign bony tumor located near growth plate with cartilaginous capWhat will you see on X-Ray of an osteoid osteoma?Central radiolucency with thickened bone around itWhat is the classic syndromic association with Wilm's Tumor?WAGR Wilms Tumor Aniridia GU anomalies Retardation ALL PATIENTS WITH HEMIHYPERTROPHY AT RISK (Beckwith Wiedemann, Klippel Trenaunay, Russell Silver, Proteus)What other cancer does Retinoblastoma put you at risk for?Osteosarcoma (aka osteogenic sarcoma)What are the classic findings of Neuroblastoma?-Most common extracranial solid tumor of childhood -Abdominal mass -Purple hue to eyes (lymphoid tissue) -Opsoclonus-myolonus -Prognosis good if <1 year, bad if >1 yearWhat is Crowe Sign?Axillary/inguinal freckling seen in NF-1What is Rhabdomyosarcoma?Most common SOFT TISSUE sarcoma in kids. Vaginal/rectal mass that is described as grape-like should clue you inWhat is the life span of a RBC? Platelet?RBC: 120 days (4 months) Platelet: 10 daysWhat is anemic for a newborn?<13What is polycythemia defined as? What are complications of polycythemia? Risk factors for it? Treatment?Hematocrit >65%, treatment threshold is 70% Hypervisicosity symptoms, hypoglycemia (RBCs using up glucose), thrombocytopenia, clots, stroke. Risk factors of IUGR, delayed cord clamping, twin to twin transfusion, IDM, down syndrome, chronic hypoxia. Treat with exchange transfusionWhat are the lab anomalies you may see with PRBC transfusions? Calcium Potassium PlateletsHYPOcalcemia (calcium precipitates out as bloods mix) HYPERkalemia (rbcs hemolyzing through IV) Thrombocytopenia (dilutional)Explain the concept/timing/lab findings of physiologic nadir (anemia).Adult hemoglobin slowly replaces fetal hemoglobin. Adult hemoglobin has a lower affinity for oxygen, therefore releases more oxygen to tissues. This drives EPO production DOWN, causing anemia. Occurs between 6 and 16 weeks, should not be lower than 9What are the lab findings in hemolytic anemia? Comment on haptoglobin.Elevated reticulocyte count (>1%) Elevated bilirubin Bili in urine LOW SERUM HAPTOGLOBINWhat is Pyruvate Kinase Deficiency? What is an interesting exercise fact about this condition?Enzyme deficiency resulting in energy issues Can cause RBC instability and hemolysis Condition causes buildup of DPG, which shifts oxygen dissociation curve to the right, resulting in hemoglobin having less O2 affinity. They have great exercise tolerance because of this despite anemia.What is Hereditary Spherocytosis and the associated lab findings?Spectrin deficiency where cells are fragile. These cells are ballooned, which is why they have HIGH MCHC Diagnose with osmotic fragility if you see LOW hemoglobin, LOW retic, and HIGH MCHC, think of HS with aplastic crisis.Is paroxysmal nocturnal hemoglobinuria coombs or complement mediated?COMPLEMENT Coombs will be negativeDoes an ASD cause RVH or LVH? What about a VSD?ASD: RVH VSD: LVHWhat antibodies will be positive in Graves vs. Hashimoto'sHashimotos: TPO or Anti-thyroglobulin Grave's: Thyroid Stimulating Antibody (ACTIVATING and stimulating the thyroid)What is the APGAR score review?There are only 3 levels of "scoring", memorize the middle column and up or downgrade as necessaryIn a sickle cell sequestration crisis, should you pick IVF or PRBCs to bring blood pressure back up if patient is shocky?IVF, this will bring BP up FASTERWhat is the most common organism to cause osteo in sickle cell patients?Salmonella moreso than staph Salmonella is encapsulated therefore is more common in sickle cellWhat are the encapsulated organisms?Some Nasty Killers Have Some Capsule Protein Strep pneumo Neisseria Klebsiella Haemophilus Salmonella Cryptococcus PseudomonasWhat is appropriate pencillin prophylaxis for sickle cell patients?Through 5 years of ageWhat is the electropheresis result for sickle cell trait?HgB SAIs anemia of chronic disease normocytic or microcytic? What will TIBC be?Normocytic TIBC will be low because there is enough ironWhat is a normal MCV up to 2 years of age?70-90 can be normalIs thalassemia generally microcytic or normocytic?MicrocyticWhat are the general principles of Alpha Thalassemia?Hemoglobin is made up of 2 alpha and 2 beta chains Alpha chain production is controlled by 4 genes, beta chain production is controlled by 2 genes Defects in GENES of alpha cause varying levels of escalating symptoms (1 defect = asymptomatic, 4 defects = incompatible with life) YOU CANNOT DIAGNOSE ALPHA DEFINITIVELY WITH ELECTROPHORESIS, NEED GENE TESTINGWhat are the general principles of Beta Thalassemia?Hemoglobin is made up of 2 alpha and 2 beta chains Alpha chain production is controlled by 4 genes, beta chain production is controlled by 2 genes, but there are THREE forms Beta Trait (aka beta minor): 1 defective gene. Asymptomatic Beta Intermedia: 2 defective genes with obvious microcytosis. Usually in the 6-9 range. Beta Major aka Cooley's Anemia: 2 defective genes with SEVER microcytic anemia in 1st year of life. Frequent transfusions. Will see microcytosis, target cells, and basophilic stippling. Due to number of transfusions, can get hemochromatosis with iron deposit in organs, like heart, causing CHF. Treat with Desferoxime.Is lead toxicity a microcytic or macrocytic anemia?MicroWhat are the microcytic, normocytic, and macrocytic anemias?In addition to sino-pulmonary infections, what are other infections IgA Deficiency patients are prone to?GirardiaWhat is subcutaneous fat necrosis and what electrolyte abnormality are they at risk for?HypercalcemiaWhat are some side effects of Depo-Provera?Weight gain, irregular menses, nausea, breast tenderness, decreased bone mineral density, clottingWhat is Fanconi Anemia?Aplastic, macrocytic anemia Multiple anomalies including short stature, cafe au lait spots, renal abnormalities, microcephaly, hypogonadism, upper limb/hand anomalies. Need a bone marrow transplant At risk for leukemia Mnemonic: The BIG CEILING FAN You are a detective and investigate a serial killer's home. You see a PLASTIC CEILING FANS THE COLOR OF CAFE AU LAIT (fanconi anemia is aplastic) and has 4 plastic blades looking like cones. Each cone has hidden body parts. They're dripping blood so you investigate. The body parts inside; gonad, small head, arm, and handWhat is Fanconi Syndrome?Dysfunction of proximal tubule, resulting in losses of amino acids, proteins, electrolytes, and glucose. Symptoms including polydipsia, polyuria, FTT, and TON of abnormal labs including Type II RTA (due to loss of bicarb), thus a non-gap metabolic acidosis. Loss of phosphorus can cause rickets.Are diamond blackfan anemia and fanconi anemia micro, normo, or macrocytic anemias?MACROCYTIC Think of the HUGE plastic fan bladesWhat is a drug that can cause aplastic anemia?Chloramphenicol (its an antibiotic)What is TAR syndrome?Thrombocytopenia and absent radius syndrome Thrombocytopenia with absent radii but present thumbs. AMEGAKARYOCYTIC (low or absent number of megakaryocytes on BM biopsy)What will the MPV (mean platelet volume) be in patients with ITP?LARGE platelets with high MTPWhat is TTP?Thrombotic Thrombocytopenic Purpura Similar to HUS, but mostly in teens and with more intracranial involvement. Associated with certain meds or pregnancy. Antibodies develop against ADAMTS13, which is an enzyme responsible for cleaving von Willebrand factor. Excess of VWF leads to extra clotting. These patients can also get feverWhat is Glanzmann Thrombasthenia?Unexplained bleeding in a patient with normal platelets, normal PTT, and normal INR PLATELET DYSFUNCTION DISORDERWhat is Benard Soulier Syndrome?Mild thrombocytopenia + LARGE platelets + prolonged bleeding timeWhat is the inheritance of Von Willebrand's?Autosomal DominantWhat labs will you see in von Willebrand's?Elevated PTT and Bleeding time Measure VIII/IX to rule out hemophilia and vWF Can give DDAVP to increase vWF and Factor VIII. Can give factor concentrate for extreme bleedingIn DIC, what do you treat the Low Fibrinogen with? Low clotting factors?Low Fibrinogen: Cryopreciptiate (has fibrinogen, VIII, vWF) Low clotting factors: FFP most clotting factorsWhat are some notable medications that need to be taken on an empty stomach?Azoles, iron, and levo They require an acidic environmentWhat is the Prehn sign?Elevation of the testicle which relieves pain, seen in epididymitisWhen is soy formula indicated?Galactosemia Vegan Diet MUST BE TERMWhat is the carbohydrate source of most formulas?LactoseWhat is caudal regression syndrome? What is it associated with?Congenital anomalies that involve the sacrum, spinal cord, lower extremities. Associated with T1DMWhat is the difference between administration timeline of TdaP vs. DTap?DTap: before 7 years Tdap: after 7 D before T in the alphabetWhat are the similarities and differences between Marfan's and Homocystinuria?BOTH have tall statue, pectus excavatum, and lens problems Lens will be UPWARDS displacing in marfan's, DOWN in homocystinuria Homocystinuria is associated with developmental delay while marfan's is notWhat are the radiographic findings in a nursemaid's elbow?Normal X-RayWhat is diagnostic for sweat chloride testing for CF?>60 >40 is suspiciousWhat does ampicillin cover in neonatal sepsis? Gentamicin?Ampicillin: GBS, Enterococcus, Listeria Gentamicin: Gram negativesWhat is the treatment for Tetanus?Debridment of infected tissue, tetanus immunoglobulin, and Metronidazole OR PenicillinWhat is the treatment for Diptheria?Erythromycin or Penicillin GCan you get Rheumatic fever from GAS skin infections?NoCan PGSN occur from pharyngitis AND skin infections? Or just one?Can occur with eitherWhat will you see on PSGN from the following: C3, C4C3 Low C4 NormalWhat is the usual offending pathogen with Retropharyngeal Abscesses?GASIf you have known GBS bacteremia/meningitis, what antibiotic should you use?Penicillin GWhich pathogen should you think of when you see a brain abscess on the exam?Citrobacter freundiiHow is H. flu described on gram stain?Pleomorphic OrganismDo contacts of Pertussis+ patients (regardless of immunization status) need prophylaxis?Yes, immunity wanes!If you see NON exudative conjunctivitis referred to as Conjunctival Suffusion, what should you think of? Treatment?Leptospirosis Also look for multi-system complaints, headache, abdominal pain, rash. Transmitted through animal urine. Treat with PenicillinWhat should patients with fungal sepsis be treated with?Amphotericin BWhat exposure is Cryptococcus associated with? What are the symptoms? How to diagnose? What is it treated with?History of bird droppings or travel to NW US Can cause PNA or meningitis Diagnose with India Ink stain Treat with Amphotericin first, then Fluconazole (unless its isolated respiratory disease, then you can just treat with fluconazole)What are the exposures that should make you think about Blastomycosis? Symptoms? Treatment?Found near water Can present as PNA or flu-like illness Treat with azolesWhat are the symptoms and treatment for Coccidioidomycosis?PNA (possibly with pulmonary nodules) or flu like symptoms. Western exposure Treat with amphotericin or azolesHistoplasmosis exposure history, symptoms, and treatmentExposure to bird dropings or travel to OHIO or MISSISSIPPI. Also caving/spelunking. Usually cleared without treatment, but can cause calcifications that can look like TB on X-Ray. Can also get pulmonary fibrosis, hepatosplenomegaly, and mediastinal/hilar classifications. Treat with amphotericin or azoleSymptoms and treatment of AspergillusImmunocompetent: Allergic Bronchopulmonary Aspergillosis, usually presents as CF or asthma patient with worsening exacerbation despite appropriate treatment. Treat with ITRACONAZOLE. Immunocompromised: Invasive pulmonary disease resulting in nodular infiltrates. Can cause chronic eosinophilic PNA. Treat with VORICONAZOLE OR ISAVUCONAZOLE.What is the only condition on the exam where "Acute and Convalescent" titers is the correct answer?Arbovirus EncephalitisHow do you diagnose EBV?IgM titers even if monospot screen is negativeWhat comes first in Roseola: Fever or Rash?Fever THEN RashWhat is the progression of rash in Varicella?Starts on trunk, then face, then extremitiesWhen should VZV immunoglobulin be given to newborns?If mom developed symptoms within 5 days prior or 2 days after deliveryWhat are the conditions that require negative pressure rooms/isolation?Measles Mycobacterium Tuberculosis VaricellaWhat should your testing for HIV be in the newborn period for high risk babies?DNA PCR at birth and 2 weeks NOT RNA PCR, which is for viral loadWhat is the testing trajectory for babies born to HIV+ mothers?All get tested at 2 weeks, 2/4 months, and 6/8 monthsWhen does prophylaxis for babies born to HIV+ mothers need to be started? How long does it need to continue?Within 72 hours (ideally within 6) Continue for 6 weeksRegarding rabies exposures, when is wound care + Rabies immunoglobulin + the four vaccine dose indicated vs just observation?Wound care + Rabies immunoglobulin + the four vaccine dose: exposure to wild or aggressive animal Observation: PetWhat are the clinical features of Treacher Collins Syndrome?Midface/mandibular dysmorphology. Bony hypoplasia, choanal atresia/stenosis, cleft lip/palate. Downward slanting palpebral fissures. Hypoplastic lower eyelids with absent lower eyelashes. Can also have conductive hearing loss and newborn respiratory distressWhat is the most common sequelae of ingestion of the following? Hydrocarbon Alkali/Acid Caustic AcidHydrocarbon: chemical pneumonitis Alkali/Acid: Esophageal Burn Caustic Acid: Gastric perforationWhat is appropriate cholesterol screening for children?Between 9-11 and again between 17-21 If they are high risk at 2-8 yearsWhat is the symptom progression of Measles?Cough, conjunctivitis, coryza, Koplik spots first, THEN rash. Rash starts on head and progresses down. Usually resolves after 5 daysWhat is the major cause of death in Measles?PneumoniaWhen are measles patients contagious?4 days prior and 4 days after the rashWhat are some broad things you should know about measles post-exposure prophylaxis?Most exposures result in IGIM being given. Give MMR if it's less than 3 days of exposure Give IGIM if it's 4-6 days 6 days and up don't give anything Never give MMR and IGIM at the same timeWhat are the symptoms of congential rubella?Cataracts, microphthalmia, PDA, deafness, blueberry muffin syndromeIs MMR a live or inactivated vaccine?LiveWhat are the symptoms of Entamoeba Histolytica? Treatment?Abdominal pain, diarrhea, TENESMUS. Look for liver abscesses. Treat with metronidazoleWhat are the symptoms and treatment of Cryptosporidium?Watery diarrhea that is lasting a LONG time >7 days to a month Supportive care vs. NitazoxinideWhat is the common name for Enterobius? Treatment?Pinworms Treat with a single dose of AlbendazoleWhat are the worms that have multi-system involvement, and what are some features that differentiate them?Ascaris Lumbricoides: Pancreatitis/Intestinal Obstruction, will have shifting infiltrates on X-ray with respiratory symptoms of bronchitis Toxocara Canis: Visceral larva migrans with hepatosplenomegaly, also has lung involvement Hookworm: Can cause anemia and malnutrition due to blood loss in the setting of GI/Respiratory symptomsWhat are the symptoms of Trichuris?Diarrhea and RECTAL PROLAPSEWhat are the symptoms of Filariasis?Orchitis, epididymitis, elephantiasis due to lymphatic filariasisWhat does Diphyllobothrium Latum cause?B12 DeficiencyWhat is empiric treatment of peritonitis in a patient on peritoneal dialysis?Vancomycin to treat Staph EpiIf you suspect a brain tumor and cranial nerves are involved, what kind of tumor should you be thinking of?Brainstem GliomaWhat are teeth findings in the following: Fluorosis Lead Poisoning Mercury Poisoning Arsenic Poisoning SyphilisFluorosis: Whitish lines running across the teeth with chalky-brownish enamel discoloration with dental pittingWhat is the most common infectious cause of erythema multiforme?HSV-1Congenital Toxoplasmosis and CMV look similar in clinical presentation. How can you differentiate them?Toxoplasmosis: Diffuse calcifications that are ring enhancing CMV: Periventricular calcifications that are NOT ring enhancingWhat are the symptoms of congenital syphilis?Maculopapular rash, hepatosplenomegaly, generalized lymphadenopathy, PEELING SKIN. C Can later develop a perforated palate, perforated nasal septum, hearing loss, hutchinson teeth (peg shaped with central notch)Is the following statement true: Rotavirus is NOT associated with food and water intake. Do not pick this for a child who has recently been on a camping trip or picnicTHIS IS TRUEWhat are the two main testable types of E. coli and their treatment considerations?EHEC: Bloody diarrhea with shiga like toxin (STEC). Can cause HUS, do NOT give abx ETEC: Non-bloody "Traveler's Diarrhea". Can use a macrolide if diarrhea is >1 week. This is the one diarrheal illness you can consider loperamide with.What are the symptoms of Shigella diarrhea?High fever, bloody diarrhea, Tenesmus. Serious disease causes rectal prolapse and seizures.What are the two different types of Salmonella and their treatment considerations?Non-Typhi: Green, malodorous diarrhea. Can have blood. Associated with food intake so look for picnic exposure, dairy, eggs, or IGUANA PET. Do not treat with abx, can cause prolonged illness. Typhi: Typhoid Fever! Fecal oral transmission, causes lots of fever that is persistent. Treat with Ceftriaxone.What can you treat Campylobacter with?ErythromycinWhat do you treat Giardia with?MetroWhat is a common bacterial pathogen of lymphadenopathy in a neonate?Staph and Strep (GAS)What should you be thinking of when you see preauricular lymphadenopathy?Adenovirus or MonoWhat is the treatment for Brucellosis (note the different treatments for age)<8: Bactrim + Rifampin >8: Doxy + Rifampin or streptomycin or gentamicinWhat are the symptoms and treatment for Yersinia?This is the plague. Found in Southwestern US. Fever with painful lymphadenopathy StreptomycinWhat are the special stains and growth media for the following: Bordetella Corynebacterium Neisseria CryptococcusBordetella: Regan Lowe or Bordet Gengou Corynebacterium: Loeffler or Tinsdale Neisseria: Thayer Martin Cryptococcus: India InkWhat should you be thinking of if cough is described as the following: Staccato Barky ParoxysmalStaccato: Chlamydia Barky: Croup Paroxysmal: PertussisWhat is the clinical presentation and most likely offending pathogen in Bacterial Tracheitis?Staph Croupy presentation with a cough that QUICKLY deteriorates with high fevers. These kids look badWhat is a common side effect of hydroxyurea?Can cause leukocyte and platelet suppressionWhat labs should you check prior to initiating oral isotretinoin?Fasting serum triglycerides, LFTs, pregnancy testWhen should vaccinations be held in the context of steroid administration?If prednisone is given for >2 weeks at a dose >20mg/day or 2mg/kg/day, HOLD LIVE VACCINES for 1 month Otherwise if given for less than than 2 weeks regardless of dose can give vaccines.What are the vaccine considerations for premature babies?Can get all immunizations according to CHRONOLOGICAL AGE except for Hep B and Rotavirus.What are the 7 live vaccines? (4 regular and 3 special)MMR Oral Polio Varicella Rotavirus Adenovirus Yellow Fever Inhaled InfluenzaCan healthy HIV patients get live vaccines?YesWhat are the time constraints of Rotavirus vaccine?NOT BEFORE 6 weeks NOT AFTER 15 weeks This means that children who miss the 2 month and present for the 4 month visit can no longer be immunized for rotavirusWhen is Hepatitis A vaccine given?12 months and 18 monthsWhen is Hepatitis B given? What are the 3 intervals you need to remember?Ideally at 0, 1, and 6 months Need 4 weeks between 1 and 2 Need 8 weeks between 2 and 3 Need 16 between 1 and 3How should you manage babies born to a Hepatitis B positive mother?Give both Hep B vaccine and immunoglobulin at birthWhen should HPV vaccine be given?If started at 11-2 years old: 2 doses 6 months apart If after 15 years old: 3 doses at 0, 1, and 6 month intervalsWhen should meningitis vaccine be given?All kids at 11 years old with a booster at 16When/what is prophylaxis indicated for exposures to patients with N. meningitis?ANY close contact needs RifampinWhen/what is prophylaxis indicated for exposures to patients with H. flu?TWO documented cases are required for school and daycare, ONE if its household. They get RifampinWhen/what is prophylaxis indicated for exposures to patients with Pertussis?All household contacts and all exposed people that are high risk (infants, pregnant women in 3rd trimester, pre-existing illnesses like asthma) <6 weeks gets Azithromycin >6 weeks gets Erythromycin (dye to risk of pyloric stenosis in little ones)When/what is prophylaxis indicated for exposures to patients with Hepatitis A?Hep A immunoglobulin to family members who are UNIMMUNIZEDWhen/what is prophylaxis indicated for exposures to patients with Hep B needle stick?Immunized: None Uncertain: Check for antibodies, if no immunity (negative antibodies), give immunoglobulin and start full vaccination series Unimmunized: Give immunoglobulin and start full vaccination seriesWhen/what is prophylaxis indicated for exposures to patients with Varicella?Immunoglobulin to high risk individualsWhat is the tetanus vaccine schedule?DTaP at 2, 4, 6, 15 months, and 5 years TdaP booster at 11-12 years and then Q10 yearsWhat version of the tetanus shot do kids get at: <7 7-10 >11<7: DT 7-10: Td >11: TdaPWhat vaccines are given at 2, 4, and 6 months?DTaP, IPV, Hep B, Hib, PCV-13Is rotavirus injection or oral vaccine?OralWhat vaccines are given at 12 months?MMR, Varicella, Hep AWhat vaccines are given at 15 months?DTaP, Hib, PCV-13What vaccines are given at 18 months?Hep AWhat vaccines are given at 4-5 years?DTaP, IPV, MMR, VaricellaWhat vaccines are given at 11-12 years of age?Tdap, HPV, MenactraWhat vaccines are given at 16-18 years old?MenactraWhat is the 5-4-3-2-1 rule for vaccines?5= total of 5 DTaP doses (last one at 5 years of age) 4= PCV, IPV, Hib, 4 doses total 3= Hep B, 3 total doses 2= MMR, Varicella, Hep A 1= rhymes with noneWhat are the contraindications to DTap vaccination?If a child has encephalopathy or a prolonged seizure within 1 week of getting DTaP, the PERTUSSIS component is the cause and should be excluded in the future. Instead, give DT Also, if they have a PROGRESSIVE neurological disease it is relatively contraindicatedIf you see Burkholderia on the test, what condition should you be thinking of?Cystic FibrosisHow do symptoms of fat soluble deficiencies present?Problems with proprioception, ataxia, vision, coagulation, hypocalcemiaWhat are the electrolyte abnormalities seen in CF?All electrolytes are low except bicarb Hypochloremic metabolic alkalosis, hyponatremia, hypokalemia, hypochloremia, hypocalcemia. Sweat and chloride lost in sweat, potassium lost in stool, calcium low due to vitamin D deficiency from fat malabsorptionIf you see nodular PNA in a CF patient on the exam, what organism should you think of? What about lung abscess?Nodular PNA: Staph Abscess: PseudomonasWhat should you be looking for if you see asthmatic patient with nasal polyps?Look for an answer about nasal polyps, asthma, and Aspirin/NSAID hypersensitivityWhat are the similarities and differences between Laryngomalacia, Tracheomalacia, and Subglottic stenosis?Laryngo: Inspiratory stridor, presents at 4-6 weeks, resovles by 12 months Tracho: Expiratory stridor, presents at 4-6 weeks Subglottic stenosis: Biphasic stridorWhat pulmonary/CV complication can babies with congenital diaphragmatic hernia get?Persistent pulmonary hypertensionWhat is the mnemonic for classifying asthma severity?For daytime symptoms: 23DC (a month) 2 or less= intermittent 3 or more= mild daily= moderate continuous= severe For nighttime symptoms: 23WN (a month) 2 or less= intermittent 3 or more= mild Weekly= moderate Nightly= severeHyper-IgE is is associated with recurrent abscesses of which pathogen?S. aureusWhich two organs should you focus on with Alpha-1-antitrypsin deficiency?Lungs: emphysema is noted with bullae at the bases of the lungs Liver: ascites, cirrhosis, varices, biopsy will show globules, labs with elevated GGt and alk phos. Mnemonic: bullae at the bases, close to the other problematic site, the liver!If a neonate has a CXR with patchy areas of diffuse atelectasis, what should you be thinking of?Meconium Aspiration SyndromeIf you are given a CXR of a neonate with underinflation, ground glass findgins, and air bronchograms, what should you be thinking of?RDS or congenital GBS PNAIf you are given a CXR of a newborn or infant with diffuse opacities with cystic areas, what should you be thinking of?BPD, secondary to prolonged barotrauma/oxygenation. Treat with diuretics.Male child with recurrent infections caused by encapsulated organisms, absence of lymphadenopathy and tiny tonsils should make you think of what diagnosis?Bruton's X-linked agammaglobulinemia BRUXTON'sWhat is the clinical presentation of atypical GAS infection?-Children <3 -Protracted symptoms of nasal discharge, low grade fever, irritability, decreased PO, tender anterior cervical LAD, no inflammation of pharyngeal area. -Called "streptococcal fever"What should you be thinking of when you see itchy, raised, non-linear, reddish-brown tracks on feet after an outdoor exposure?Cutaneous Larva MigransHow do you differentiate between Herpangina (caused by coxsackievirus) and herpetic gingivostomatitis (caused by HSV)?Herpangina: lesions localized to posterior pharyngeal wall, uvula, and/or anterior tonsillar pillars. Often rupture, forming large, tender fibrin covered ulcerations. Herpetic Gingivostomatitis: can see ulcerations of the buccal mucosa and tongueWhat is amblyopia?(Lazy Eye), reduced vision in one eye caused by abnormal visual development early in lifeWhen is it appropriate to order a Somatosensory Evoked Potential (SEP) test?Only if you are concerned about a demyelinating process. S.E.P. = Separation = testing for SEParation of the myelin from the nerveWhen is it appropriate to order nerve conduction velocity testing?Peripheral neuropathyWhen is it appropriate to order an EMG?Used to test for abnormal MUSCLE activity (use this in patients suspected of having muscular dystrophy)What are the symptoms of Erb Palsy? Affected nerves?"Waiter's tip" If baby is able to GRASP, it's Erb Note: may also have unilateral diaphragmatic paralysis C5-C7What are the symptoms of Klumpke Palsy?Claw Hand deformity UNABLE TO grasp, can also have associated Horner's Syndrome C8-T1 injuryWhat is Horner Syndrome?T1 lesion resulting in ptosis, miosis, anhidrosis Affected eye has a droopy lid and small pupil.What is the first step in the evaluation of a child with progressive weakness/paralysis?Evaluate for respiratory compromise! Look for tachypnea, accessory muscle use, paradoxical breathing, and shallow respirations to determine if you need to choose "prepare to intubate"Is sensation preserved in Guillan Barre sydrome? Bladder/bowel continence?Yes, both are preservedWhat are the CSF findings consistent with Guillan Barre Syndrome?Albuminocytologic dissociation (increased CSF protein in the absence of pleocytosis aka increased WBC)What is the treatment for Guillan Barre Syndrome?IVIG Steroids do NOT helpHow do you differentiate between Guillan Barre and Cord Compression syndrome?GBS will have maintenance of rectal tone, bowel/bladder continence, and sensation. Also has DECREASED reflexes. Cord Compression will have loss of rectal tone, sensation, and INCREASED reflexesHow do you differentiate between Tick Paralysis and GBS?Have similar presentations (both are ascending paralysis syndromes with absent reflexes). If it looks like GBS but they mention the summertime, woods, a trip, or anything about a tick, think about this. Also, tick paralysis can have lack of fever, normal CSF, and quicker progression of symptomsWhat is the presentation of transverse myelitis?Inflammation of the spinal cord that can look like cord compression syndrome (bowel/bladder dysfunction, increased reflexes)How will an epidural abscess present? What is the treatment?Fever, pain, lower extremity weakness, paresthesias, eventually paralysis. Will have INCREASED reflexes. Treat with anti-staph abx and dexamethasoneWhat is Dandy Walker malformation? What is it associated with?Malformation that can present with delayed motor development, progressive enlargement of the skull, breathing problems and increased ICP. Associated with PHACES syndrome and Congenital Melanocytic NeviExcess of what vitamin is associated with Pseudotumor Cerebri?Vitamin AHow do you diagnose/treat Tourette's?-Diagnosed with TWO motor tics and ONE vocal (can likely change over time) -Can treat with Clonidine or Guanfacine -Common with ADD -ADD meds can unmask a tic, KEEP GIVING THE ADD MEDHow does SMA syndrome present? How can you differentiate it from muscular dystrophies?Hypotonia, poor suck, TONGUE FASCICULATIONS Only disrupts motor function, NO sensory deficits Can differentiate from DMD because DMD does not have tongue fasciculations. Also, SMA will have a normal CK because it is a NERVE not muscle problemWhat is myotonic dystrophy?- autosomal dominant - myotonia: sustained involuntary contraction of a muscle group - Can have endocrine and GI involvement - CK is usually normalWhat is Charcot Marie Tooth disease?Type of hereditary peripheral neuropathy Distal weakness, clumsiness, PES CAVUS, distal calf muscle atrophy, sensory deficitsHow can you differentiate between the following STDs when given a history of a genital lesion: Treponema Klebsiella granulomatis Haemophilus ducreyi HSV ChlyamydiaTreponema: Painless ulcer, 3 weeks after exposure and can go unrecognized Klebsiella granulomatis: Painless ulcer with NO development of lymphadenopathy. Ulcers are very vascular and bleed. Uncommon in the US (India, Africa). Treat with Macrolide Haemophilus ducreyi aka Chancroid: Painful ulcer with shallow ulceration with painful inguinal lymphadenopathy. Treat with macrolide. HSV: Multiple painful vesicles with tender inguinal lymphadenopathy Chlyamydia: Painless ulcer with development of painful, bilateral inguinal draining lymphadenopathyWhen is peak height velocity in boys vs girls?Girls: SMR 2-3 Boys: SMR 3-4What are some of the lab findings associated with PCOS?Increased LH, often of a ratio of LH:FSH > 2.5:1 Increased LH can also lead to increased testosteroneWhat is a cystic hygroma? What is it associated with?Congenital malformation of the embryonic lymph sac, leading to soft, fluctant transculent masses. Mostly occur on posterior cervical triangel of neck, axilla, sometimes trunk or extremities. Associated with aneuploidies (including trisomy 13, 18, 21)What are the conditions approved for GH therapy?Prader Willi Sydrome Turner/Noonan CKD History of SGA with poor catch up Severe idiopathic short stature Aids wasting syndromeWhat are the symptoms and EEG findings of Benign Epilepsy of Childhood aka Benign Rolandic Epilepsy?Most common form of epilepsy in children. Usually occur at night while asleep, otherwise simple (awake). Facial motor symptoms are common with sensory involvement of the tongue.What is the presentation of Juvenile Myoclonic Epilepsy? Treatment?Usually starts during adolescence Upper extremity myoclonus is common (look for a teen that keeps knocking over or dropping orange juice or soap in the shower). Most will also have GTCS Treat with Valproic AcidWhat is the classic EEG pattern seen with Infantile Spasms? Treatment?Hypsarrhythmia (characteristic EEG pattern found BETWEEN spasms) Treat with ACTHWhat is Friederich's Ataxia?Child that is slow and clumsy around puberty. Ataxia due to degeneration of nerve fibers, particularly in spinal tracts and loss of proprioception. Can also have DM, CHF (from myocardial fiber degeneration), high plantar archHow does benign positional vertigo vertigo present?Ataxia and horizontal nystagmus in a child under 3 (but can be any age)Are fasciculations seen in uppper or lower motor neuron disease?LowerHow does an epidural hematoma present?History of trauma (even mild), and may present with a rapid decline in mentation. There can be a LUCID PERIOD where a patient is fully conscious before suddenly becoming unconscious again. Lucid period can last hours to days!If you diagnose Spina Bifida with Meningomyelocele, what other neurologic workup should you perform?Brain imaging to rule out Arnold Chiari II malformationWhat is arnold chiari malformation?Downward displacement of cerebellar tonsils below foramen magnum. Can be asymptomatic, but symptoms could be headaches, ataxia, apnea, spasticity, or bladder dysfunction.Where is the epiphysis, physis, metaphysis, and diaphysis?Metaphysis=M=MidsectionWhat are the 5 types of Salter Harris Fractures? which one can have a posterior fat pad on X-Ray?Type VWhat is a Torus/Buckle fracture?Compression of the bone via longitudinal force. Can see a protuberance on one side of the buckles, the other side is fine. Does not go through the growth plate and overall not that serious.What is a Greenstick Fracture?Occurs at the diaphysis of bending of young, soft bone.What are some unique presenting symptoms of Distal Humeral Fractures?Can have neurovascular injury Can result in compartment syndrome can have more than expected pain can have a posterior fat padAre dislocated shoulders more commonly anterior or posterior? More likely in prepubertal or postpubertal?More common anterior More common postpubertal (look for fracture in prepubertal!!!)What is proximal humeral epiphyiolysis?Little League Shoulder Results from a separation of the epiphysis from the metaphysis at proximal humerus, results in Salter Harris I Typically occurs in adolescent baseball or softball playersWhat is Genu Varum (bowed legs) pathologic?Pathologic if it is unilateral, worse after 1 year of age, persists after 2, or presents after 2What is Blount Disease? How does infantile blount disease differ?Abnormal growth of the medial epiphysis of the proximal tibia. More common in african americans. Think of this when you see a patient with bowed legs and a fracture. Look at the X-Ray to see if the proximal, medial aspect of the tibia looks odd, and if that leg is bowed. Infantile is usually symmetric.When do you expect to see intoeing? Treatment?Normal between 2 years to 5-6 years old, treat with reassurance.What is the presentation/treatment of Legg Calve Perthes Disease?Idiopathic avascular necrosis or osteochondrosis of the femoral head. Painless limp but can also be with referred Hip Pain and Knee Pain. The femoral head shape is extremely irregular and jagged. Treat with casting or bracing, blood supply will go back to normal over timeWhat is Osteochondritis Dissecans?Knee that locks up and swelling due to necrosis of the articular surface of a joint, usually the KNEE. Treat with immobilization and may require surgery for bone fragment removalWhat are the curvature degree cutoffs for scoliosis treatment?<25: Obs >25 and still growing; brace >40: needs surgeryWhat is Spondylolysis?Fracture of the vertebral pars. Presents with standing pain, extension at the hip, or straight leg test Look for a gymnast with back painWhat is Spondylolisthesis?Slipped vertebral body with low back pain, usuall around L5-S1. Pain worse with standingWhat is Triple A aka Allgrove syndrome?Achalasia Alacrima ACTH insufficiency Can also have associated autonomic dysfunction and intellectual disabilityWhen does the parachute reflex present?8-9 monthsWhen does hand/toe grasp present? Disappear?Both are present at birth. Hand grasp goes away at 3-4 months Toe grasp goes away at 9-12 monthsWhat imaging should you use to work up developmental dysplasia of the hip? Don't forget this changes with age!6 weeks to 4 months: Ultrasound Past 4 months: X-RayWhat are the risk factors for developmental dysplasia of the hip?Breech presentation in 3rd trimester Positive family history Previous clinical instability Parental Concern History of improper swaddlingWhat is the most common pathogen that causes septic hip?Staph Aureus (if a teen consider gonrrhea coverage as well)How do you differentiate between Septic Hip, JIA, and Serum Sickness in the context of hip pain?Septic Hip: Acute JIA: Chronic Serum Sickness: urticaria with arthralgia (pain withOUT inflammation)What are the clinical findings of Compartment Syndrome?Trauma --> Swelling --> blood flow restriction --> necrosis Pain Paresthesia Pulselessness Paralysis Pallor These are LATE findings so be concerned if you have trauma with any sensory deficit. Measure compartmental pressuresWhat are some arthrocentesis pearls?WBC <200: Normal Yellow appearance: Normal Any positive gram stain: TREAT for infection regardless of other numbers WBC >2000: Inflammatory or infectious WBC ~5000: Consider lupus or rheumatic fever (especially if low or decreased viscosity) WBC >50,000: Likely SEPTIC ARTHRITISHow do you diagnose JIA?Must be 16 at time of symptoms onset Symptoms for at least 6 weeks Does not need RF for diagnosis (negative RF doesn't mean shit) Oligoarticular JIA: 4 or more joints, associated with chronic uveitis so eye exams are needed! Polyarticular: 5 or more joints, systemic symptoms less common Systemic aka Stills: Episodic salmon rash called evanescent rash, extremely high leukocytosis (30K+), spiking fevers, lymphadenopathy, hepatosplenomegaly, pericarditis or Koebner phenonmenon (linear skin lesions along site of injury or scratch). Negative serum markers. If everything fits te patient and doesn't have arthritis, pick this!How do you differentiate between Leukemia and Still's disease?Stills has morning, not nighttime pain Stills has pain in the joint, not the bone Stills has mild hematologic abnormalities, leukemia has massive abnormalities Stills has waxing/waning symptoms, not progressive Stills has more of an insidious onset, leukemia is more acuteWhat are the symptoms of Lupus? What are the key serologic tests and their relative sensitivities/specificities?ANA: most sensitive, not specific ant-DNA: next most sensitive anti-Smith: most specific/diagnosticWhat are the lab findings associated with Lupus Nephritis?High anti-DNA Low C4/C4 CH50What kind of drugs are more likely to cause drug induced lupus?Seizure meds Sulfa drugs Lithium Hydralazine QuinidineWhat are the symptoms of Juvenile Ankylosing Spondylitis? Lab findings? Treatment?Chronic inflammatory condition that involves fusion of the spin and inflammation of the hips. Often involves SI joint. Pain is worse with rest Seronegative spondyloarthropathy Treat with NSAIDS or steroidsWhat are the symptoms of Behcet's?Apthous Ulcers Genital Ulcers Uveitis Arthritis GASTROINTESTINAL COMPLAINTSWhat is Psoriatic Juvenile Idiopathic Arthritis?Affects children <6 years old Symptoms of dactylitis, arthritis of wrists, hand, and feet. Can also have enthesitis (pain at insertion points of ligaments and tendons), spinal disease, or sacro-iliac disease. Can also have uveitis. May have a child with the above findings with mildly elevated inflammatory makers and elevated ANAWhat is Dermatomyositis? Symptoms? Diagnosis/labs?Heliotropic, violaceous rash in malar area Gottron's Papules (erythematous, shiny, pruritic papules over the metacarpals) Calcinosis cutis PROXIMAL MUSCLE WEAKNESS Diagnose with muscle biopsy. CK will be sky high.What is HSP/IgA Vasculitis? Symptoms? Labs? Treatment?Vasculitis with multi-system involvement (skin, joints, GI tract, kidneys) Palpable purpura, usually on lower extremities Periarticular joint involvement (soft tissue only) at knees or ankles Colicky abdominal pain, blood in stool, intusseception, gallbladder hydrops Hematuria +/- proteinuria, which can range from mild to nephrotic range. Complement can be low Renal biopsy can be obtained if diagnosis is in doubt, and will show IgA, IgG, and C3 deposits Treat supportively (NSAIDS if no renal disease)What are the clinical findings of Sarcoidosis?Hilar adenopathy + multisystem complaints Can have fatigue, exercise intolerance, weight loss, chronic cough If lesions biopsied, would show noncaseating granulomasWhat are the clinical findings of Sjogren Syndrome?Dry eyes, dry mouth, parotiditis, arthralgias, caused by lymphocytic infiltration of exocrine glands. May have labs consistent with RTA Diagnose with biopsy of the lip or salivary gland to look for lymphocytic infiltration (may also have dry schirmer's test, where a paper is touched to the eye to see absorption)What is the workup for microscopic hematuria?Unless overt symptoms, can initially repeat in 2 weeks Look for systemic symptoms and family history of renal disease First step to workup would be URINE CALCIUM AND URINE CREATININE. Calculate the calcium to creatinine ratio and if it's >0.25, do a hypercalciuria workup (24 hour collection, positive ratio would be greater than 4) If urine calcium to creatinine ratio is <0.25, get a renal ultrasoundWhat should you be thinking of if given a track athlete with positive urine dipstick for blood but only a few RBCs on microscopy?MyoglobinuriaHow do you workup proteinuria?Note: general illness and dehydration can cause transient proteinuria. If persistently concerned, start with 1st AM void protein analysis. Standing prolonged can cause proteinuria, so if there is no protein on a first AM void, it's probably positional. If there is proteinuria on first AM void, obtain a random protein to creatinine ratio, if it's >0.2, there is renal disease and will need a biopsyWhat are the respective cutoffs for proteinuria and hematuria ratios?Proteinuria: Protein to Creatinine ratio >0.2 Hematuria: Calcium to Creatinine ratio >0.25What are WBC casts associated with? RBC casts?WBC: Interstitial nephritis and pyelo RBC: GlomerulonephritisWhat kind of urinary crystals are seen in breast feeding?Uric Acid crystals BenignWhat are Cystine urinary crystals associated with? What do they look like?Can cause nephrolithiasis. Are hexagonal, think "6-teinuria"What are struvite urinary crystals associated with? What do they look like?Associated with UTIs of ureas producing organisms that cause staghorn caliculi (Proteus, klebsiella, pseudomonas, enterbacter) Look like coffin lidsWhat are Calcium Oxalate urinary crystals assocaited with? What do they look like?Most common in humans, 2 kinds 1) Square, with an X on it 2) Associated with Ethylene Glycol poisoning, elongated and looks like a rodWhat is the clinical presentation/workup of UPJ Obstruction?Suggested on ultrasound by dilated renal calyces, pelvis, or frank hydro. May be born with signs of oligohydramnios. 1) Postnatal ultrasound 2) VCUG to rule out other anomalies and PUV 3) MAG3 Furosemide scan (renogram) done to look for slow flow of urine from the renal pelvis into the ureter (this is the definitive test)What is the workup for VUR? When is surgery/prophylactic abx indicated?VCUG is workup Grade 1-2 VUR resolves spontaneously within 5 years and does not need prophylaxis 3-5 requires surgical correction if there is no improvement after a year and requires abx (bactrim, nitro, amox if <2 months)What is the presentation of posterior urethral valves? Treatment? Syndromic association?Incorrectly facing urethral valves causing bilateral hydronephrosis. Need surgical correction because it can cause ESRD Occurs only in MALES Associated with Prune Belly SyndromeWhat should you be thinking of/obtain if you see an abdominal mass at birth?Should be thinking of a retroperitoneal mass of renal origin Get renal ultrasound to look for hydronephrosis or multicystic dysplastic kidneyWhat is Multicystic Dysplastic Kidney? Workup? Management?Unilateral disease where affected kidney is essentially cysts and non-functioning. Contralateral kidney has >25% chance of having VUR so start abx prophy and get a VCUG to look for VUR. Will likely also have to do the MAG3 Furosemide renogram.What is a Ureterocele?Most common cause of urinary retention in girls. Associated with abd pain, hematuria, dysuria (similar to UTI symptoms)What is rosacea? Treatment?Facial erythema on cheeks, nose, chin. Papulopustrular. Treat with topical metronidazoleWhat is the clinical presentation/labs of IgA Nephropathy? How do you differentiate between this and PSGN?Recurrent hematuria worse during or after URI/GI infection. During episode can have RBC casts with microscopic hematuria in between NO COMPLEMENT ISSUES. Distinguised from PSGN because PSGN will have low C3 Diagnose with renal biopsy (IgA and IgG mesangial deposits) Can be self limitedWhat are the general symptoms of Nephrotic Syndrome?Classic Triad: Edema + Proteinuria + Hypoalbuminemia Manifests as generalized edema and can also have hyponatremia (due to hypovolemia), hypercoagubility, and hematuria.If you see the following on renal biopsy what are you thinking of? Focal segments of glomeruli with sclerosis Thickened capillary loops Tram track lesionsFocal segments of glomeruli with sclerosis: Focal Segmental Glomerulonephrosis Thickened capillary loops: Membranous nephropathy Tram track lesions: MPGN (also will have decreased C3/C4)What is Medullary Sponge Disease?Can present with recurrent renal stones and hematuria. UA otherwise normal. Aside from the stones, fairly benignWhat are Bitot spots and their associated vitamin deficiency?Thickened areas on the eyes of keratin debris Associated with Vitamin A deficiencyWhat is the order of tooth eruption?Which antibiotics interfere with the metabolism of oral contraceptives?Rifampin and RifabutinGenerally speaking, Varicoceles require no workup. When is workup indicated?Abdominal US is indicated if the are pre-pubescent due to their associated with Wilm's Tumor.What type of acid/base disorder do all RTAs have?Normal Anion Gap Metabolic AcidosisWhat is the clinical presentation and lab findings of RTA Type I?Hyperchloremic Non-Anion Gap Metabolic Acidosis This is due to hydrogen ions not being excreted in urine, thus alkalinizing the body and acidifying the blood. Non-Anion Gap Metabolic acidosis + Urine pH >5.5, hypokalemia Associated with Sjogren's RA, Lupus. Can also lead to stones and urinary tract obstruction. Also look for this with FTT!What is the clinical presentation and lab findings of RTA Type II?Due to a partial bicarb reabsorption defect in the PCT, leading to bicarb wasting in urine. Although bicarb is lost in urine, acid secretion in urine is still normal, so pH <5.5. Look for serum acidosis with urine ph <5.5What is the acid/base disorder seen with Laxatives, Diuretics, and excessive vomting?Hypochloremic Hypokalemic Metabolic alkalosisHow can you differentiate between the following STDs: Lympogranuloma venereum due to Chlamydia Chancroid due to Haemophilus ducreyi Treponema Pallidum Klebsiella GranulomatisLympogranuloma venereum due to Chlamydia: Painless lesions then painful lymphadenopathy Chancroid due to Haemophilus ducreyi: Everything is painful (lesion and lymphadenopathy), think duCRYing all the time Treponema Pallidum: lesion and lymphadenopathy are painless Klebsiella Granulomatis: painless lesion WITHOUT adenopathyWhat are the clinica findings of Holt-Oram syndrome?Aka Hand-Heart syndrome Upper limb defects (absent or hypoplastic radius/thumb) Triple Jointed Thumb Septal DefectsBoth RTA and Severe Diarrhea can cause non-anion gap metabolic acidosis. How ca you differentiate them further from a lab perspective?RTA will have a positive urine anion gap Diarrhea will have a negative urine anion gapDoes pubic hair development happen before or after axillary/facial hair?Pubic hair first!What is the inheritance and treatment of Nephrogenic Diabetes Insipidus?X-Linked Treat with HCTZWhat are the time considerations of diagnosing ADD?Diagnose after 6 years of age but before 12 years Rule out other medical explanations prior to initiating therapyWhen is letter reversal normal until?7 years oldWhat is stuttering normal until?4 years of age (remember that all of a child's speech should be intelligible by 4 years old so refer if still stuttering!)What is the difference between nightmares and night terrors?Night Terrors: first 1/3rd of REM sleep, can walk during episodes so have increased risk of injury. Do NOT remember the event Nightmare: last 1/3rd of REM sleep, are immobile so no risk of injury. Often do remember the event.When are breath holding spells most common?6-18 months, although can be up to 5 years old. Can become unconscious or even have a seizure!How can you differentiate between neonatal conjunctivitis caused by Gonorrhea vs. Chlamydia?Gonorrhea: presents at 2-5 days of life Chlamydia: presents at 5-14 days of lifeWhat is the distinction between elevated BP, Stage 1 HTN, and Stage 2 HTN?What is PFAPA? Treatment?Periodic Fever Apthous Stomatitis Pharyngitis Adenopathy Treat with single dose of PrednisoneWhat is the best initial test to investigate concern for Cushing's Syndrome?24 hour urine collectionIn addition to developmental delay, what else are females with Rett syndrome at risk for?Cardiac arrhythmias due to dysregulation of the autonomic nervous systemPatients with cyclic neutropenia are at risk for sepsis with which organism?Clostridium septicumDoes Isotretinoin affect kidney function?NoDo you see GI symptoms/FTT in Kartagener's (Immotie Cilia Syndrome)?NoWhat are the differences in cardiac abnormalities between Turner's and Noonan's?Turners: Bicuspid aortic valve and coarctation of the aorta Noonan: Pulmonary stenosis, ASD, Tetralogy of FallotWhere in relation to the sternocleidomastoid are branchial cleft cysts located?Anterior to SCMWhich vaccine is contraindicated in family members of immunocompromised individuals?Live attenuated influenza vaccineWhat is Guttate Psoriasis? What is the clinical picture prior to appearance of these skin lesions?Sudden appearance of "drop like" papules and plaques. Mostly over trunk and proximal extremities. Preceded by Strep infection (pharyngitis or skin) Resolves with supportive careWhich three clotting factors can be made outside the liver?Tissue Factor (seen on surface of many cell types) von Willebrand factor (Endothelial cells and megakaryocytes) Factor 8 (is produced in the liver AND other organs) Clinical pearl: "poor man's biopsy" to determine if there is DIC vs. Liver failure is to simultaneously order factor 5 and factor 8What murmur should you be thinking of when you hear "midsystolic click followed by an apical systolic murmur"?Mitral Valve Prolapse Recall that this is common in Marfan'sWhen should screening for microalbuminuria occur for Type 1 Diabetics vs. Type 2 Diabetics?Type 2: At diagnosis Type 1: 5 years after initial diagnosis Yearly screenings for both thereafterIf live parenteral vaccines are not administered on the same day, how long should you wait before administering them apart from each other?4 weeksWhat general group of fungus causes tinea?TrichophytonHow much sleep do the following age groups require? 4-12 months 1-2 years 3-5 years 6-12 years 13-18 yearsDo Turner's or Noonan's syndrome patients have hypertelorism?NooanWhat are the differences between Brown Recluse and Black Widow bites?Brown Recluse: usually form blistering and necrotic ulceration Black Widow: muscle cramping, spasms, vomiting, malaise, muscle rigidityWhat is being tested with McMurray Test? Varus/Valgus test?McMurray: Meniscal injury Varus/Valgus:In regards to HIV, what is severe immunocompromisation referred to?CD-4 T-Lymphocyte % less than 15Clinically, how can you differentiate Spondylolisthesis vs. SpondylolysisSpondylolysis: point tenderness Spondylolisthesis: noticeable lordosisHow can you differentiate between Prader-Willi and Laurence Moon Biedl/Bardet Biedl syndrome?Laurence Moon Biedl/Bardet Bidel will have Retinitis Pigmentosa in addition to the obesity, hypogonadism, and intellectual disability seen in Prader WilliIs Wiskott Aldrich associated with recurrent skin infections?NoWhat is empiric treatment of outpatient PID? How does this different from regular Gonorrheal treatment?Outpatient PID: CTX + 2 weeks of Doxy (can add metro if Trich+) Outpatient Gonorhrea: CTX + Azithro x1When would Anti-ASO vs. Anti DnaseB (deoxyribonuclease B) be helpful?ASO: to assess for recent pharyngeal strep infection Anti DnaseB: to assess for recent impetigo strep infectionWhat is the suspected pathogen in acute vs. subacute endocarditis?Acute: Staph aureus Subacute: Strep ViridansWhich vaccines are given subcutaneously?MMR Varicella IPV (or IM)What is IgA Bullous Dermatosis? How does it present? Appearance? Treatment?Idiopathic or drug induced Appears kinda similar to Erythema Multiforme, but with bullae Treat with dapsoneWhat tests should be obtained for international adoptees (asymptomatic)?What are some of the lab findings of Rhabdo?Elevated CK Hyperphos, hyperK Hypocalcemia, hypoalbuminemiaWhat are the symptoms of Sotos Syndrome?-LGA babies with macrocrania in addition to the pictureWhat is the chromosomal abnormality in Fragile X?An expansion of a repetition of a single trinucleotide gene sequene on the X-ChromosomeInjury to which nerve root causes Horner syndrome?T1Both Pulmonic Stenosis and ASDs have RVH and ejection murmur at the L 2nd intercostal space. How can you tell them apart based on EKG and auscultationPulmonic Stenosis: tall spiked P waves ASD: Wide, fixed split of S2 (this would not be heard in Pulmonic Stenosis!!!)What is appropriate prophylaxis for meningococal meningitis?Rifampin 10mg/kg (max 600mg) BID x2 days CTX IM x1 Cipro 500mg x1 Azithro can also be used, but not routinely recommendedWhat are the side effects of: Topiramate Valproic Acid Phenobarbital Phenytoin LacosamideWhat electrolyte abnormality can be seen with Rocky Mountain Spotted Fever?HyponatremiaWhat is the general presentation of inborn errors of metabolism?Acute onset lethargy, vomiting, tachypnea, confusion, seizures. Look for the ABSENCE of fever Note: patients with Galactosemia may actually have gram negative rod sepsis (especially E. coli)What are general presenting symptoms of Organic Acidemias?Early presentation (DOL 2) Virtually every lab abnormal (hypoglycemia, hyperammonemia, ketoacidosis, lactic acidosis) Can also have thrombocytopenia and ganulocytopeniaWhat are the general presenting symptoms of Urea Cycle Defects?Look for high ammonia but with normal other labs Note: can have mild respiratory alkalosis, NOT acidosis Hyperammonemia + HypotoniaWhat is the general presentation of Fatty Acid Metabolism Disorders?Hypoglycemia (that's the trigger), metabolic acidosis (lactic acid), and hyperammonemia (from protein breakdown) WITHOUT KETOACIDOSIS (fatty acids cannot be broken down into ketones) Will typically present when there is a stressor or meals are spread out and carb reserves become depleted. This is when the inability to metabolize fatty acids results in symptomsWhat are general pearls of Storage Diseases/Glycogen Storage Diseases IPresent later in infancy with SLOWLY PROGRESSIVE issues. This is because it takes months to years for intra-organ metabolites to build up GSD I presents during fasting or when meals have been spread out. Look for older child who is sleeping moreWhat are general pearls of Mitochondrial Disorders?Elevated Lactic Acid and Pyruvate Have issues with fat or carb metabolism and will be using anaerobic metabolism Will also have increased URIC ACID because patient depends on protein for energyWhat are general pearls of amino acidopathies? What is the exception?Occur when an ISOLATED amino acid cannot be broken down. Since it's just ONE amino acid, there is no hyperammonemia. NO acidosis. The one exception to this is Maple Syrup Urine Disease: hypoglycemia, hyperammonemia, and acidosis. Will have symptoms week 1 and progress to severe neurologic issues within 2-3 weeks if untreated.How long should the fever last in Varicella?5 days If longer, consider serious bacterial superinfectionGalactosemia -Overall pathogenesis -Labs -Other pearls -TreatmentCaused by GALT deficiency, Galactose-1-phosphate cannot be broken down so look for an elevated Galactose-1-phosphate level Treat with Lactose/Galactose-free diet At risk for gram negative rod sepsis (especially E. coli)What is a normal Ammonia level?<50 Look for VERY HIGH ammonia inWhat are the findings of Hyperglycinemia?Acute encephalopathy Hiccups Seizures with "burst suppression" on EEG All normal labsWhat is the inheritance pattern for most metabolic conditions? What are the 2 notable exceptions?Most are autosomal recessive Hunter is X-linked Ornithine Transcarbamylase is X-linkedHow do you determine the age of someone based off their ability to draw body parts?Start off with a base of 3 years add 1/4 for every appropriate body part addition (note: there needs to be symmetry, so 2 legs counts as 1/4, not 1/2) Note that PBR says a 4 year old can draw a simple stick figure and that a 5 year old can draw one with 6 body patsWhat can you hear on ausuclation of some Anorexic patients?Murmur consistent with MVP as a result of myofibrillar atrophy Apical systolic murmur associated with a midsystolic apical clickWhat is the most common cause of acute vs. chronic sinusitis?Acute: S. pnuemo, moraxella, nontypable H. flu Chronic: S. aureus, anaerobes, fungi, aerobic gram negativesWhat are the 2 date rape drugs?Gamma-hydroxybutyrate (GHB) RohypnolHow do you differentiate between Duchenne and Becker muscular dystrophy? Comment on a lab finding specifically in addition to other things.Duchenne is more severe Duchenne presents earlier in life (2-6 years of age) vs Becker (5-10 years) Dystrophin is absent in duchenne, will be present but diminished in BeckerWhat is the best testing for ACUTE HIV?HIV plasma RNA Western Blot takes up to 60 days to be sensitive, so it is poor for acute HIVAre patients with Trisomy 21 more likely to be affected by Celiac Disease?YesHow will the skin look when affected by: Staph enterotoxins Strep pyrogenic exotoxins A, B, and CStaph: erythroderma aka "sunburn" rash Strep: Fine, sandpapery rash with desquamation of the trunk, hands, and feet as it resolvesWhen do you get ultrasound vs x-rays for developmental dysplasia of the hip workup?Younger than 4 months: US Older than 4 months: X-RayWhat is the appropriate Strep pneumo immunization ppx in sickle cell patients?PCV at 2, 4, 6, and 12 months PPSV23 at 2 years, 5 yearsHow are SCFE and Legg-Calves-Perth Disease described on X-Ray?What is the differential for isolated prolonged PT?How do the locations of thyroglossal vs branchial cleft cysts differ?Thyroglossal: midline Branchial cleft: anterior to SCMWhat is normal penile length in newborns?2cmWhat are the lab findings associated with organic acidemias? When in their lifetime will they present? How to diagnose? Treat?Virtually every lab will be abnormal. Metabolic acidosis Ketosis Lactic Acidosis Hyperammonemia Elevated bilirubin Thrombocytopenia and granulopenia Present EARLY (DOL 2) Diagnose with URINE organic acid levels Treat with HYDRATION, stopping protein intake, giving IV glucose acutely Chronically will need a low protein diet and L-CarnitineIsovaleric Acidemia -What kind of disorder is it -Presentation symptoms -Lab findings -TreatmentOrganic Acidemia Presents with history of sweaty feet smell, poor feeding, seizures. Also prone to getting infections so look for fever THiS IS AN ORGANIC ACIDEMIA THAT DOES NOT HAVE LACTIC ACIDOSIS Treat with protein restrictionMethylmalonic Acidemia & Propionic Acidemia -What kind of disorder is it -Presentation symptoms -Lab findings -TreatmentOrganic Acidemias Both present with poor feeding, vomiting, dehydration, lethargy. May look like pyloric stenosis or sepsis. Elevated ammonia, acidosis, lactate, diagnose with urine organic acids MMA: Treat with B12 Propionic Acidemia: Treat with BiotinGlutaric Acidemia, like Isovaleric Acidemia, can present with this symptomThe smell of sweaty feetTransient thrombocytopenia is a rare side effect of which vaccine?Any measles containing vaccinegangWhich organic acidemia does not have lactic acidosis?Isovaleric AcidemiaUrea cycle defects will have which lab supremely elevated?AmmoniaUrea Cycle Defects: -Symptoms -Labs (which ones are common, which ones are pathognomonic) -Diagnosis -Treatment-Vomiting, lethargy, hypotonia -MASSIVE hyperammonemia with respiratory alkalosis. LOW ARGININE AND LOW BUN = urea cycle defect -Diagnosis with serum citrulline, arginine, ASA, URINE orotic acid -Treat with increased caloric intake but protein restrictWhat kind of defect is Ornithine Transcarbamylase Deficiency? -Inheritance -Classic lab (besides elevated ammonia)Urea Cycle Defect -X-Linked -HIGH urine orotic acidWhat are the "ine's" a part of?Urea CycleWhat kind of disorder is Citrullinemia? Classic lab?Urea Cycle Defect Look for high citrulline levelIF you see "Acyl-Co-A dehydrogenase" as an answer choice, what kind of disorder is it? What kind of labs should you see? Diagnosis/Treatment?Fatty Acid Oxidation Disorder Hypoglycemia (this is the trigger) + Metabolic Acidosis + hyperammonemia + NO KETOACIDOSIS Diagnose with Carnitine and Acylcarnitine levels Treat with IV GlucoseIf a pt has DRESS syndrome, which virus can be re-activated?HHV-6How long should live vaccine administration be held in the following: -Steroids for >2 weeks -IVIGSteroids: 1 month IVIG: 3-11 monthsWhen does parachute reflex appear? How long will it persist?Appears at 6-9 months, last foreverHow can you differentiate between Lymes and Erhlichia?rash is more vasculitis in ehrlichia no bell's palsy in ehrlichiaWhat are the 4 Glycogen storage diseases?VoPoCoMc Von Gierke's Pompe Cori McArdleDo glycogen storage diseases present in the first week of life?No, they are storage diseasesGSDI aka Von Gierke's -Deficiency -Symptoms -Labs TreatmentGlucose-6-phosphatase deficiency, resulting in an inability to break down glycogen Hepatomegaly with doll like face Hypoglycemia, ketoacidosis, lactic acidosis, hyperuricemia Continuous feeds or frequent complex carb diet (such as cornstarch)GSDII aka Pompe -Deficiency -Symptoms -LabsLysosomal disorder where cellular glycogen breakdown cannot occur Organomegaly (including cardiomegaly) with hypotonicity, FTT, macroglossia NO HYPOGLYCEMIA because other glycogen breakdown can occurHow can you differentiate between GSI (Von Gierke) and GSDII (Pompe)GSI has hypoglycemia, GSDII does notWhat are the 5 tested amino acidopathies? Which one is unique in terms of labs?PKU Alkaptonuria Maple Syrup Urine Disease Homocystinuria Tyroseinemia MSUD is theo nly one with hypoglycemia, hyperammonemia, ketones, acidsosis (labs can look like organic acidemia so look for other clinical clues)What is the defect in PKU? Treatment?Phenylalanine can't be broken down into tyrosine Treat with low phenylalanine diet, may need tyrosine supplementation since tyrosine is now an essential amino acidHow does PKU differ from Alkaptonuria? What is the classic urinary finding of Alkaptonuria? Diagnosing Alkaptonuria?PKU can't break down phenylalanine into tyrosine Alkaptonuria can't break down phenylalanine AND tyrosine Alkaptonuria has black urine in diaper since urine turns dark after exposure to air. "All-black-toned-uria" Diagnose Alkaptonuria with homogentisic acid levels in urineBenzene is associated with what side effect?Aplastic AnemiaWhich STD is usually found in Caribbean populations?Klebsiella granulomatous "Karibbean"How can you differentiate between E-Tox and Transient Neonatal Pustular Melanosis?E-tox will have an erythematous base, TNP will not TNP can occur on the palms and soles, E-tox cannot Eosinophils: E-tox Neutrophils: TNPWhat is the age cutoff for 2 vs 3 doses of HPV?<15 years: 2 >15 or equal: 3How can you differentiate TAR syndrome from fanconi anemia, diamond blackfan, and VACTERLTAR will have NORMAL thumbsWhat is the side effect of the following: Rifampin IsoniazidRifampin: Orange Pee (think red/orange) Isoniazid: Peripheral neuropathy (zzzz = sleeping feet = neuropathy)What is the minimum age you can give the Meningitis vaccine?2 monthsHow many half lives to reach steady state?5What is the most common murmur with endocarditis from IV drug use?Triscupid RegurgWhat is the gold standard for diagnosing biliary atresia?Intraoperative cholangiogramHow can you differentiate between Hunter's and Hurler's? How are the similar (aside from being Lysosomal storage disorders)?BOTH have growth deceleration and are Lysosomal Storage disorders Hurler's is autosomal recessive, Hunter's is X-linked Huler's has corneal clouding, hunter's dose notWhat are the differences and similarities between Tay Sachs and Niemann-Pick Disease?Both are Sphingolipidoses, will have progressive neurologic deficits Both have cherry red spot in macula Niemann Pick has organomegaly, Tay-Sachs does NOTRegarding drug use, what are the unique side effects of: Inhalant use Meth MDMAInhalant: excessive lacrimation, rhinorrhea, salivation (think of Quinn getting gassed in homeland) Meth: Dry mouth --> "meth mouth" MDMA: BruxismWhen should you refer undescended testes?6 monthsWhat will ITP show on peripheral smear?Increased platelet sizeWhat is the minimum amount of time between Varicella Doses?3 months if they're less than 13 years old 4 weeks if older than 13 yearsWhat is the other name for SMA 1?Werdnig-HoffmanRolandic Epilepsy EEG findingCentrotemporal sharp wavesIs there ever male-male transmission of X-linked recessive disorders?NoTrue or False: If a child has received Hib at 15 months or older, they don't need any more even if they are really behindTrueDoes Juvenile Plantar Dermatosis affect the interdigital spaces?NoFever, rash, arkansas, ticks, pancytopenia make you think of what?ErlichiaAre infants of diabetic mothers at higher risk for hypertrophic cardiomyopathy?YesWhen should pts start to be screened for depression12 years old