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Pediatrics Review - Emma Holliday Ramahi

Terms in this set (280)

General info about how the newborn tolerated labor (1min) and the newborn's response to resuscitation (5min)
What does the APGAR tell you?
What to do next (does not guide therapy)
How the baby will turn out (does NOT predict neurologic outcome)
What does the APGAR not tell you?
Erb-Duchenne C5-C6. (Klumpke is C7-C8 + T1) Refer if not better by 3- 6mo for neuroplasty
PE: When assessing Moro on an LGA newborn, the right arm remains extended and medially rotated.
Clavicular Fracture.
Will form a callus in 1wk. No tx needed. Can use figure of 8 splint.
PE: When palpating the clavicles on a LGA newborn, you feel crepitus and discontinuity on the left.
Caput succedaneum
"Edema. Crosses suture lines."
Cephalohematoma
"Fluctuance. Doesn't cross suture lines."
Mongolian Spots
Nevus Simplex (Salmon Patch)
Milia
Erythema toxicum
Appears in up to half of newborns carried to term, usually between day 2-5 after birth. Resolves within first two weeks of life, and frequently individual lesions will appear and disappear within minutes or hours. It is a benign condition thought to cause no discomfort to the baby
Strawberry Hemangioma
Neonatal Acne
Nevus Sebaceous
"an area of alopecia with orange colored nodular skin"
Remove before adolescence b/c it can undergo malignant degeneration.
Seborrheic Dermatitis
"thick, yellow/white oily scale on an inflammatory base".
What to do? Gently clean w/ mild shampoo
Phenylketonuria and Galactosemia.
Two disorders screened for in every state because they are disastrous if not caught early (and happen to be a contraindication to breast feeding...)
Deficient G1p-uridyl- transferase. G1p accum to damage kidney, liver, brain.
• Sxs = MR direct hyperbili & jaundice, ↓glc, cataracts, seizures.
• Predisposed to E. coli sepsis.
• No lactose por vida.
Galactosemia.
• Deficient Phe hydrolxalase.
• Sxs = MR, vomiting, athetosis, seizures, developmental delay over 1st few mos
• Signs = fair hair, eyes, skin, musty smell.
• Low Phe diet.
Phenylketonuria.
Physiologic Jaundice. Gone by 5th DOL.
Liver conjugation not yet mature.
3 days old, bili @ 10, direct is 0.5. Eating & pooping well.
Breast feeding Jaundice. ↓feeding = dehydration = retain meconium & re- absorb deconjugated bili.
7 days old, bili @ 12, direct is 0.5. dry mucous membranes, not gaining weight.
Breast milk Jaundice. Breast milk has glucuronidase and de-conj bili.
14 days old, bili @ 12, direct is 0.5. Baby regained birth weight, otherwise healthy.
Pathologic Jaundice = on 1st DOL, bili >12, d-bili >2, rate of rise >5/day.
Test: Coombs
Positive: Rh or ABO incompatability
Negative: twin/twin or mom/fetus transfusion, IDM, spherocytosis, G6p-DH deficiency, etc.
1 day old, bili @ 14, direct is 0.5. Are you worried? Next best test? If positive? If negative?
Biliary atresia. Bile ducts cannot drain bile. Causes liver failure. Need surgery.
7 days old. Dark urine, pale stool. Bili @ 12, dbili is 8. LFTs also elevated.
Always r/o sepsis!
Galactosemia
Hypothyroid
Choledochal cyst
CF
Biliary atresia (<2mo)
Other causes of direct hyperbilirubinemia?
Gilbert - ↓glucoronyl transferase level
Crigler-Najjar (type1) - total deficiency
Random inherited causes of indirect hyperbili? (2)
Dubin-Johnson Sx - asx, black liver
Rotor Sx - NO black liver
Random inherited causes of direct hyperbili (2)
Indirect bili can cross BBB, deposit in basal ganglia and brainstem nuclei and cause kernicterus. (esp if bili is >20)
Why do we care about hyperbilirubinemia?
Phototherapy (Tbil>20)--> ionizes the uncoj bili so it can be excreted.
Double volume exchange transfusion (Tbil>25) if that doesn't work.
Treatment for hyperbilirubinemia
Diaphragmatic hernia
Concern: Pulmonary hypoplasia
Txt: If dx prenatally, plan delivery at @ place w/ ECMO. Let lungs mature 3-4 days then do surg
Baby is born w/ respiratory distress, scaphoid abdomen & this CXR.
• Biggest concern?
• Best treatment?
TE- Fistula
Dx: Place feeding tube, take xray, see it coiled in thorax
Also look for: VACTER associated anomalies- vertebral, anal
atresia, cardiac, radial and renal.
Baby is born w/ respiratory distress w/ excess drooling.
Best Dx test?
What else do you look for?
Choanal Atresia
Also look for: CHARGE associated anomalies- coloboma, heart defects, retarded growth, GU anomalies , Ear anomalies and deafness
1 week old baby becomes cyanotic when feeding but pinks up when crying.
• What else do you look for?
RDS
Prenatal Dx: L/S<2, give antenatal betamethasone
Pathophys: Surfactant def, can't keep alveoli open.
Txt: O2 therapy with nasal CPAP to keep alveoli open
32 wk premie has dyspnea, RR of 80 w/ nasal flaring.
- Prenatal Dx?
- Pathophys?
- Txt?
TTN
Pathophys: Lung fluid not squeezed out, retained
Prognosis: Usually minimal O2 needed. Self resolves in hrs to days
38 wk LGA infant born by C/S to an A2GDM has dyspnea/grunting
- Pathophys?
- Prognosis?
Meconium Aspiration Syndrome
Next: intubate and suction before stimulation
Complications: Pulmonary artery HTN, pneumonitis
41 wk AGA infant was born
after ROM yielded greenish-
brown fluid.
*Next best step?
*Complications?
Gastroschisis
will see high maternal AFP
Not usually associated w/ other d/o
Complications: May be atretic or necrotic req removal. Short gut syndrome
Defect lateral (usually R) of midline, no sac
- Assoc w/ other d/o?
- Complications?
Omphalocele
Assoc w/ Edwards & Patau Trisomies, Beckwith Wiedemann Syndrome = big baby w/ big tongue, ↓glc, ear pits
Defect in the midline.
Covered by sac.
- Assoc w/ other disorders?
Umbilical hernia
Assoc w/ congenital hypothyroidism. (also big tongue)
Repair not needed unless persists past age 2 or 3yo
Defect in the midline. No bowel present.
- Assoc w/ other d/o?
- Txt?
Pyloric stenosis
Complications: hypochloremic metabolic alkalosis
Txt: immediate surgery referral for myotomy
4wk old infant w/ non- bileous vomiting and palpable "olive"
- Metabolic complications?
- Txt?
Intestinal Atresia
(Or Annular Pancreas)
Assoc w/ Down Syndrome (esp duodenal)
2wk old infant w/ bileous vomiting. The pregnancy was complicated by poly- hydramnios.
- Assoc w/?
Malrotation and volvulus
*Ladd's bands can kink the duodenum
Gut fails to rotate 270* counterclockwise around SMA
1 wk old baby w/ bileous vomiting, draws up his legs, has abd distension.
- Pathophys?
Meconium ileus- consider CF if +FH *gastrograffin enema is dx & tx
Hirschsprung's- DRE --> exposion of poo. bx showing no ganglia is gold standard
A 3 day old newborn has still not passed meconium.
- DDX? (name 2)
Necrotizing enterocolitis
- What do you see on X-ray? pneumocystis intestinal (air in bowel wall)
- Treatment? NPO, TPN (if nec), antibiotics and resection of necrotic bowel
- Risk factors? Premature gut, introduction of feeds, formula.
A 5 day old former 33 weeker develops bloody diarrhea
- What do you see on xray?
- Treatment?
- Risk factors?
Intussusception
*Barium enema is dx and tx
A 2mo old baby has colicky abd pain and current jelly stool w/ a sausage shapend mass in the RUQ.
Cryptorchidism
Assoc w/ prune belly syndrome
- Where are they usually? Inguinal canal
- Next best test? US if not palpable
- When to do surgery? If not descended by 1yr to avoid sterility/cancer
Newborn male with no palpable testes.
- Where are they usually?
- Next best test?
- When to do surgery?
Hypospadias
DON'T circumcise! Foreskin is used in eventual repair
Newborn male with urethral opening on the ventral surface.
- What do you NOT do?
Congenital Adrenal Hyperplasia
- Most common Cause? 21 Hydroxylase deficiency. (autosomal recessive)
- Definitive test? 17-OH progesterone before and after ACTH bolus
- Tx? Hydrocortisone and fludrocortisone (↑ doses in times of stress)
Newborn child with ambiguous genitalia. One month later has vomiting & ↓Na ↑K and acidosis.
- Most common Cause?
- Definitive test?
- Tx?
- Prenatal care? Control glc in the 1st trimester & take 4mg folate/day
- Risks to fetus? Placental insufficiency/IUGR, Congenital heart dz, NTD, Caudal regression syndrome, Small left colon syndrome
Mothers with pre-existing diabetes (esp type 1)
- Prenatal care?
- Risks to fetus?
- LGA. ↑risk of birth trauma (clavicle, Erbs), C/S & TTN
- Hypoglycemia. Why? Maternal hyperglycemia --> fetal hyperinsulinemia. Complications? Neonatal seizure (always check glc!). Treatment? Feed frequently if <40. IV dextrose if <20
- Hypocalcemia. Neonatal seizure (always check Ca!)
- Polycythemia. Why? Big baby needs more O2, hypoxia-->↑EPO. Complications? Renal or splenic vein thromboses
- Jaundice. More RBCs to bread down. Risk for kernicterus
- RDS. ↑insulin interferes w/ cortisol surge prior to birth that normally stimulates lung maturation. Check L/S ratio >2
Risks of infants born to mothers with gestational diabetes
Sepsis until proven otherwise
baby < 28 days old has a fever >100.4
CBC w/ diff, CXR, blood cultures, urine cultures (use catheter), LP
Sepsis workup in neonate
Prematurity, chorioamnionitis, intrapartum fever, maternal leukocytosis,
prolonged rupture of membranes (>18hrs), GBS+ mom.
Risk factors for neonatal sepsis?
Group B Strep
E. Coli
Lysteria monocytogenes
Most common neonatal sepsis bugs?
Ampicillin + Gentamicin until 48hr cx are negative
Cefotaxime + Ampicillin if meningitis suspected
Empiric txt for neonatal sepsis?
Syphilis
Tx w/ PCN
Maculopapular rash on palms and soles, snuffles, periostitis. Txt?
Toxoplasmosis
Tx w/ sulfadiazine + leucovorin.
Hydrocephalus, intracranial calcifications and chorioretinitis. Txt?
Rubella
No tx.
Cataracts, deafness and heart defects (esp PDA, VSD), extramedullary hematopoeisis. Txt?
CMV
Tx w/ ganciclovir, but won't prevent MR
Microcephaly, periventricular calcifications, deafness, thrombo- cytopenia and petechiae. Txt?
Congenital Varicella if mom infected 1st or 2nd trimester. If mom is exposed 5 days before - 2 days after delivery, baby gets VZIG.
Limb hypoplasia, cutaneous scars, cataracts, chorioretinits, cortical atrophy. Txt?
Chemical conjunctivitis caused by silver nitrate drops. Not common anymore b/c we use erythromycin.
Neonatal conjunctivitis: DOL 1-3, red conjunctiva and tearing.
Gonococcal conjunctivitis tx w/ topical erythromycin and IV 3rd gen ceph.
Neonatal conjunctivitis: DOL 3-5, bilateral purulent conjunctivitis can cause corneal ulceration.
Chlamydia conjunctivitis tx w/ oral erythromycin. Complication is chlamydial pneumonia --> cough, nasal drainage, scattered crackles + bilat infiltrates on CXR
Neonatal conjunctivitis: DOL 7-14, red conjunctiva w/ mucoid discharge & lid swelling
Down's Syndrome
He will likely have moderate MR. Speech, gross and fine motor skill delay
A newborn baby has decreased tone, oblique palpebral fissures, a simian crease, big tongue, white spots on his iris
- What can you tell his mother about his expected IQ?
- Heart? VSD, endocardial cushion defects
- GI? Hirschsprung's, intestinal atresia, imperforate anus, annular pancreas
- Endocrine? Hypothyroidism
- Msk? Atlanto-axial instability
- Neuro? Increased risk of Alzheimer's by 30-35. (APP is on Chr21)
- Cancer? 10x increased risk of ALL
Common medical complications of Down's Syndrome?
Edward's syndrome (Trisomy 18)
Omphalocele, rocker-bottom feet/ hammer toe, microcephaly and clenched hand, multiple others.
Patau's syndrome (Trisomy 13)
Holoprosencephaly, severe mental retardation and microcephaly, cleft lip/palate, multiple others.
Turner's syndrome. XO.
Most common genotype of aborted fetuses
Txt? Estrogen replacement for secondary sex char, and avoid osteoporosis
14 year old girl with no breast development, short stature and high FSH.
Txt?
Horseshoe kidney, coarctation of aorta, bicuspid aortic valve
Anomalies assoc w/ Turner's syndrome?
Klinefelter's syndrome
*increased risk for gonadal malignancy
18 year old tall, lanky boy with mild MR has gynecomastia and hypogonadism.
Neurofibromatosis
Café-au-lait spots, seizures, large head. Autosomal dominant
Pierre Robin Sequence
Mandibular hypoplasia, glossoptosis, cleft soft palate. W/ FAS or Edwards.
Smith Magenis Syndrome
Deletion on Chr17
Broad, square face, short stature, self-
injurious behavior.
Prader-Willi Syndrome
Deletion on paternal Chr15
Hypotonia, hypogonadism, hyperphagia, skin picking, agression.
Angelman Syndrome
Deletion on maternal Chr15.
Seizures, strabismus, sociable w/ episodic laughter.
Williams Syndrome
Deletion on Chr7.
Elfin-appearance, friendly, increased empathy and verbal reasoning ability.
Cornelia de Lange
IUGR, hypertonia, distinctive facies, limb malformation, self-injurious behavior, hyperactive.
Fetal Alcohol Syndrome
Microcephaly, smooth philtrum, thin upper lip, ADHD-like behavior. Most common cause of mental retardation.
Fragile X Syndrome
CGG repeats on the X-chr w/ anticipation.
Most common type of MR in boys, Macrocephaly, macro- orchidism, large ears.
Waardenburg Syndrome
Autosomal dominant, or assoc w/ advanced paternal age. Short palpebral fissures, white forelock and deafness.
Bruton agammaglobulinemia
- x-linked
- infx start @ 6-9mo
- Absence of B cells on flow cytometry
- low levels of all Igs
2 y/o M w/ multiple ear infxns, diarrheal episodes & pneumonias. No tonsils seen on exam.
- Labs?
Combined variable immune deficiency. (acquired)
17 y/o F with decreased levels of IgG, IgM, IgE, and IgA but normal numbers of B cells.
Increased lymphoid tissue--> increased risk for lymphoma
Complication of Combined variable immune deficiency?
Selective IgA deficiency
Most common B-cell defect. Recurrent URIs, diarrhea.
Anaphylaxis reaction if given blood containing IgA
Complication of Selective IgA deficiency?
DiGeorge Syndrome
3wk old M with seizure, truncus arteriosus, micrognathia.
Microdeletion on Chr22
Genetic defect of DiGeorge Syndrome?
Candida
viruses
PCP pneumonia
Types of childhood infections in DiGeorge Sx?
SCID.
See infxns w/ bacterial, viral and opportunistic bugs.
Infant w/ severe infxns, no thymus or tonsils. Severe lymphopenia.
Most common inheritence is XLR. AR is ADA deficiency. Pediatric emergency! Need bone marrow transplant by age 1 or death.
SCID inheritance?
Txt?
Chronic granulomatous disease XLR. PMNs can ingest but not kill catalase + bugs.
3 y/o M child w/ recurrent swollen, infected lymph nodes in groin and staph aureus skin abscesses.
Nitrotetrazolium blue (yellow means they have the dz). New test is Flow cytometry w/ DHR-123
How to dx CGD?
Wisckott-Aldrich Syndrome.
Often present w/ prolonged bleeding after circumcision. Low IgM, high IgA and IgE, slightly low IgG.
18mo M baby w/ severe ezcema, petechiae, and recurrent ear infxns.
Diuresis of extravascular fluid
• Should regain birth weight by? 2wk
• Should double weight by? 6mo
• Should triple weight by? 1yr
Newborns lose 10% of birth weight in 1st week. Why?
Should regain BW by?
Should double weight by?
Should triple weight by?
increases 50% by 1 year
doubles by 5 years
Newborns increase 50% of length by?
Double length by?
Galactosemia, PKU, HIV, HSV on the breast, chemo, Li, Iodide, alcohol.
Contraindications to breastfeeding.
Breast milk is
- whey dominant
- more lactose
- more LCFA
- less Fe but its better absorbed
Nutritional characteristics of Breast milk vs. Formula
Constitutional Growth Delay
Child is likely to have normal final adult height.
14 y/o boy, always been below 5% in height. Parents are tall & were "late bloomers".
Bone age < Real age.
Familial Short Stature
14 y/o boy, always been below 5% in height. Father is 5'2" and mom is 4'10"
Bone age = Real age.
Obesity
Bone age > Real age.
14 y/o boy, 50% in height, 97% for weight.
Obesity
Precocious puberty
CAH
Hyperthyroidism
Bone age > Real age.
Pathologic Short Stature
Craniopharyngioma (vision problems, chect CT)
Hypothyroidism (check TFTs)
Hypopituitarism (check IgF1)
Turners (check karyotype).
14 y/o boy, starts out in 50% for height, in the past 2 years is now between the 5%-10%.
Other risks to consider?
Moro Reflex
From birth - 4/6mo
Primitive Reflex: When head is extended, arms and legs both flex.
Grasp
From birth - 4/6mo
Primitive Reflex: When you place your finger in palm, flexes hand.
Rooting.
From birth - 4/6mo
Primitive Reflex: Rub cheek, head turns to that side
Placing.
From birth - 4/6mo
Primitive Reflex: When stimulate dorsum of foot, steps up.
Tonic neck.
From birth - 4/6mo
Primitive Reflex: When neck is turned to one side, opposite arm flexes and ipsilateral arm extends
Parachute.
From 6-8mo - por vida
Primitive Reflex: When a fall is simulated, arms are extended.
Brainstem and vestibular nuclei
CNS origin of primitive reflexes?
6mo.
Also, sits w/ support, creep/crawl, stranger anxiety.
Milestones: Roll over?
60mo.
Also draws a person w/ 8-10 parts.
Milestones: Skips & copies a triangle?
15mo.
Also, builds 3 cube tower and scribbles w/ crayon.
Milestones: Walk alone?
30mo.
Also, stands on 1 foot, knows name, refers to self as "I"
Milestone: Walk upstairs w/ alternating
feet?
48mo.
Also, hops on 1 foot, throws ball overhead, group play and goes to toilet alone.
Milestones: Copy cross and square?
9mo.
Also, walks w/ hand held, object permanence, peak-a-boo & bye-bye
Milestones: Sit unsupported + Pincer grasp?
36mo.
Also, knows age and sex. Understands taking turns. Counts to 3.
Milestones: walks downstairs, copies a circle, con jump w/ both feet?
24mo.
Also, runs well, builds 7 cube tower, holds spoon, helps undress.
Milestones: 1⁄2 of speech is comprehensible & 2-3word sentences?
2mo.
Also, sustains head in plane of body, follows an object 180deg, some vowel sounds
Milestones: Social smile, start to coo?
5yo
Urinary continence should be attained by?
UTI (do a UA)
Constipation (disimpact)
Diabetes (check sugar)
Enuresis: medical causes to r/o?
Primary if continence never achieved, Secondary if after a 6mo period of dryness.
1st - behavioral- reward system, pee before bed, bell- alarm pad.
2nd - pharmacological- DDAVP or imipramine
Txt of enuresis
4yo
Fecal continence should be attained by?
constipation, fecal retention
Txt: Disimpact, stool softeners, high fiber diet
Behavioral modification: post-prandial toilet sitting
Most common cause of fecal incontinence?
HepB
(remember to give HepBIV if mom is HbsAg +)
Immunizations: birth
HepB (3)
Rotavirus (2-3)
Dtap (3)
HiB (2-4)
PCV (4)
IPV (4)
+flu (starting at 6mo)
Immunizations: 2mo, 4mo, 6mo
Egg allergy, also CI for yellow fever vac
Contraindications to flu shot?
MMR
Varicella
HepA
(live vaccines not for kiddos<12mo)

Also maybe:
3rd HBV
3rd Hib
4th PVC13
3rd IPV
+ flu
Immunizations: 12mo
Neomycin or streptomycin allergy
Contraindications to MMR
4 of 5 DTaP
3 of 4 IPV
1 of 2 MMR
1 of 3 Varicella
+flu

Completed:
3 HepB
2-3 Rotavirus
3-4 Hib
4 PVC13
2 HepA (6mo after the 1st one)
Immunizations: before 2yo
Last of:
IPV (4)
Dtap (5)
MMR (2)
Varicella (2)
+flu
Immunizations: before kindergarten
1st Tdap booster
1st meningococcal vaccine
1st HPV
Immunizations: 12yo
Stills murmur - benign
SYSTOLIC, <II/VI, soft, vibratory and
musical, heard best @ lower mid-sternum
Venous hum - benign
best heard in anterior neck, disappears when jugular vein is compressed.
- Anything DIASTOLIC.
- Anything >II/VI
-> Get an echo
Characteristics of abnormal heart murmurs
Transposition of great arteries
Newborn is cyanotic @
birth, O2 does not improve
- Most common in infants of DM mom
- Associated murmur: NONE! (unless PDA or VSD)
- Immediate tx: PGE1 to keep PDA patent
Transposition of great arteries:
- Common in?
- Murmur?
- Txt?
Tetralogy of Fallot
2yo who gets cyanotic and hypernea while playing, squats down
+ Pulmonary stenosis
+ RA hypertrophy
+ Over riding aorta
+ VSD
- Murmur: Harsh SEM + single S2
- Txt: O2 and knee-chest position, surgical correction
Tetralogy of Fallot:
- tetralogy?
- Murmur?
- Txt?
Ebstein Anomaly
Tricuspid insuficciency 2/2 TV displacement into RV.
Bipolar woman gives birth to a child w/ holosystolic murmur worse on inspiration.
Wolff-Parkinson-White
Arrhythmia associated w/ Ebstein Anomaly?
Tricuspid atresia.
Give PGE1 until surgery
Cyanosis @ birth with holosystolic murmur, depends on VSD or ASD for life. EKG shows LVH. Txt?
Truncus arteriosis. Eisenmenger develops early. Do surg in 1st few weeks of life
Heart defect associated with DiGeorge syndrome. CXR shows ↑pulm blood flow and bi-ventricular hypertrophy. Txt?
Ventriculoseptal defect
Most close by 1-2yr
#1 congenital heart lesion. Harsh holosystolic murmur over LL sternal border, loud P2.
FTT, 6-12mo w/ pHTN, >2yrs w/ Qp/Qs >2:1
Louder is Better. It means the defect is small. Most often membranous. More likely to spontaneously close.
VSD:
When is surgery indicated?
Is louder better or worse?
ASD
Loud S1 w/ fixed and split S2. Older child w/ exercise intolerance.
Endocardial Cushion Defect
@ risk for early Eisenmengers. Surgery before pHTN @ 6-12mo.
Most common defect in Down Syndrome baby. Fixed & split S2 + SEM w/ diastolic rumble. Txt?
PDA
Continuous machine-like murmur w/ bounding pulses and wide pulse pressure.
Prematurity, congenital rubella syndrome
PDA: Associations?
If not closed by 1wk, give indomethacin or surgically close
PDA: Txt?
Coarctation of the Aorta
Most common defect in Turner's baby. Decreased femoral pulses, "reverse 3 sign", "notching" @ inf rib border 2/2 incr collateral. May see asymmetry in arm BPs
HOCM
- Murmur: SEM, better w/ ↑ preload (squat, handgrip) louder w/ valsalva, standing, exercise (↓preload)
- Treatment of this child: Beta blockers or CCB (no diuretics or dig- why?). Alcohol ablation or surgical myotomy
- No sports or heavy exercise!
15 year old athlete complains of occasional palpations angina and dizziness. Last week he fainted during the 1st inning of his baseball game.
- Murmur?
- Txt?
Acute Rheumatic Fever
- Treatment: Oral PCN (erythromycin) for 10 days, then prophylactic till 20
- Complications: Mitral stenosis, (then aortic or tricuspid involvment)
7 year old girl presents with vague chest pain, pain in several different joints over the past few days, and a rash. Her ESR is elevated, and her EKG shows prolongation of the PR interval.
- Txt?
- Complications?
Cystic Fibrosis
AR, mutation on Chr7, CFTR protein.
In early childhood, suspect it when: failure to thrive (<5th % weight & height), foul-smelling, bulky, floating stools, recurrent respiratory infections and nasal polyps.
Meconium ileus = dilated loops, "ground glass", dx/tx with gastrograffin enema
Can also see rectal prolapse from chronic diarrhea.
CF signs at birth?
Diagnosis? Sweat test--> >60mEq/L chloride is diagnostic
Treatment?
- For thick resp. secretions? DNAse (mucolytic), albuterol/saline nebs
- For pneumonia? Most often pseudomonas or colonized w/ b. cepacia Tx w/ piperacillin + tobramycin or ceftazidime
- For pancreatic insuff? Enzy replacement w/ meals + ADEK supplement
- For electrolyte loss through skin? Adequate fluid replacement when exercising or when hot.
CF: Dx? Txt?
Albuterol only
Asthma txt: If pt has sxs twice a week and PFTs are normal?
Albuterol + ICS
Asthma Txt: If pt has sxs 4x a week, night cough 2x a month and
PFTs are normal?
Albuterol + inhaled CS + long-acting beta-ag (salmeterol)
Asthma Txt: If pt has sxs daily, night cough 2x a week and FEV1 is
60-80%?
Albuterol + inhaled CS + salmeterol + montelukast and oral steroids
Asthma Txt: If pt has sxs daily, night cough 4x a week and FEV1 is
<60%?
txt w/ inhaled albuterol and PO/IV steroids.
Watch peak flow rates and blood gas. PCO2 should be low.
Normalizing PCO2 means impending respiratory failure --> INTUBATE.
Mgmt of asthma exacerbation?
Allergic Brochopulmonary Aspergillus
Asthma complications
Diabetes
• Next best step? Start insulin drip + IVF. Monitor BGL and anion gap. Start K. Bridge w/ glargine once tolerating PO.
• Pathophys? T-cell mediated destruction of islet cells, insulin autoAb, glutamic acid decarboxylase autoAb
• Long term treatment? Will need insulin tx.
A 12 y/o girl presents with a 2 day history of vomiting. For the last 4 weeks, she noticed weight loss, polyphagia, polydipsia and polyuria. Na = 130, Cl = 90, HCO3 = 15, glucose = 436.
Dx? Pathophys? Next step? Long term txt?
Fasting glc >125 (twice)
2hr OGTT (75g) > 200
Any glc > 200 + symptoms
Diagnostic criteria for DM?
glomerular source
Dysmorphic RBCs or RBC casts in UA?
Proteinuria (but <2g/24hrs)
hematuria
edema
azotemia
Definition of nephritic syndrome?
Berger's Dz (IgA nephropathy). Most common cause.
Hematuria 1-2 days after runny nose, sore throat & cough?
Post-strep GN- smoky/cola urine, best 1st test is ASO titer. Subepithelial IgG humps
Hematuria 1-2 weeks after sore throat or skin infxn?
Goodpasture's Syndrome. Abs to collagen IV
Hematuria + Hemoptysis?
Alport Syndrome. XLR mutation in collagen IV
Hematuria + Deafness?
CT
Best test for kidney stones?
Calcium oxalate
Txt w/ HCTZ
Nephrolithaisis: Most common type?
Cysteine. Can't resorb certain AA.
Nephrolithiasis: Kid w/ family hx of stones. Type?
Mg/Al/PO4 = struvite
Proteus, Staph, Pseudomonas, Klebsiella
Nephrolithiasis: Chronic indwelling foley and alkaline pee?
Uric Acid
Txt by alkalinizing urine + hydration
Nephrolithiasis: If leukemia being treated
w/ chemo?
Pure oxalate stone. Ca not reabsorbed by gut (pooped out)
Nephrolithiasis: s/p bowel resection for volvulus
- Stones <5mm --> Will pass spontaneously. Just hydrate
- Stones >2cm --> Open or endoscopic surgical removal
- Stones 5mm-2cm --> Extracorporal shock wave lithotropsy
Nephrolithiasis Treatment?
- Stones <5mm?
- Stones >2cm?
- Stones 5mm-2cm?
Repeat test in 2 weeks, then quantify w/ 24hr urine
Best initial test for proteinuria
>3.5g protein/24hrs
hypoalbuminemia
edema
hyperlipidemia (fatty/waxy casts)
Definition of nephrotic
syndrome?
Minimal change dz
- fusion of foot processes
- Treat with prednisone for 4-6wks.
- Most common complication is infection- Make sure immunized against pneumococcus and varicella.
Most common cause of nephrotic sx in kids? Txt? Complications?
Suspect renal vein thrombosis! 2/2 peeing out ATIII, protein C and S. Do CT or U/S stat!
nephrotic patient suddenly develops flank pain?
Dactylitis. 2/2 necrosis of small bones
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Swollen, painful hands and feet.
Pain crises. Ischemic damage 2/2 sickling
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Excruciating pain in the extremities, ulcers, hip pain.
Osteomyelitis.
Most common bug is Salmonella
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Point tenderness on femur, fever, and malaise.
Sickle cell blood smear
↑retics, nl MCV sickles, targets, HJ bodies
Aplastic crisis. Parvo B19
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Acute drop in HCT with ↓↓retics?
Pigment gallstones. Do Chole.
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Recurrent RUQ pain after meals.
Waldyer Ring hyperplasia.
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Respiratory distress & emergent tonsilectomy?
Kidney infarcts due to sickled RBCs
An African American (or Mediterranean) kid w/ sickle cell disease comes in...Proteinuria and increased creatinine + recurrent UTIs?
Strep Pneumo
Most common cause of sepsis in sickle cell pts?
Acute Chest syndrome. Pulmonary infarction. Most common cause of death.
Txt: O2, Abx, exchange transfusion
Sickle cell pt presents w/ fever, cough, chest pain, chills, and SOB? Txt?
Stroke
Txt: Exchange transfusion (NOT tPA!)
Assessing risk? Transcranial doppler (v <200cm/sec), keep HbS <30%
Sickle cell pt p/w acute confusion and focal neurologic deficits? Txt?
23-valent pneumococcal vaccine @2yo
H. flu
N. meningitides
+PCN prophylaxis from 2mo-6yo
Sickle cell Vax and ppx?
Most likely folate deficiency (higher need 2/2 ↑retics)
Txt: Hydroxyurea increases production of HbF. Treat infx aggressively and manage pain. Bone marrow transplant cures, but has 10% post op mortality
If sickle cell pt p/w fatigue and megaloblastic anemia? Txt?
Physiologic drop in H&H 2-3mo
Transient Erythroblastopenia 3mo-6yo - immune suppression after viral infection (not B19)
Normal instances of childhood anemia?
Fe-deficiency.
Tx w/ oral ferrous salts.
18 mo kiddo, picky eater, drinks lots of cow's milk.
↓H&H, MCV 75, ↓ferritin, ↑TIBC
Thalassemia.
Varying degrees.
Tx w/ transfusion & deferoxamine.
Can see expanded medullary space
18 mo kiddo, eats a varied diet. Mom is Italian.
↓H&H, MCV 60, ↓RDW
Folate-deficiency. See low serum (RBC) folate. Tx w/ daily folate.
8 mo kiddo is irritable, has glossitis & FTT. Picky eater, drinks lots of goat's milk.
Blackfan-Diamond Anemia

Txt: Corticosteroids, transfusions, stem cell transplant.
4mo pale baby, normal plts and WBCs but hemaglobin is 4. Increased RBC ADA and low retics. Triphalangeal thumbs.
Txt?
Fanconi Anemia

- Dx? Bone marrow shows hypoplasia, Cytogenetic studies for chr breaks
- Tx? Corticosteroids, androgens, bone marrow transplant.
18mo baby presents w/ low plts, low WBCs, and profound anemia. He has café-au-lait spots, microcephaly, and absent thumbs.
Dx?
Txt?
Increased risk for AML and other cancers.
Complications assoc w/ Fanconi Anemia
Lead poisoning
Dx: venous blood sample, check lead level
2 y/o baby presents w/ hyperactivity, impaired growth, abdominal pain and constipation.
Dx?
Check venous blood level
>45 Txt w/ Succimer
>70 admit and txt w/ EDTA + Dimercaprol
Txt for lead poisoning
Test blood lead levels btw 12-24mo if low SES or lives in an old house (<1960)
Lead poisoning screening?
ITP
Tx w/ IVIG for 1-2 days, then prednisone, then splenectomy. NO plts!!
15 y/o F recurrent epistaxis, heavy menses & petechiae. ↓plts only. Txt?
VWD
DDAVP for bleeding or pre-op. Replace factor VIII (contains vWF) if bleeding continues.
15 y/o F recurrent epistaxis, heavy menses, petechiae, normal plts, ↑ bleeding time and PTT. Txt?
Hemophilia
If mild, tx w/ DDAVP, otherwise replace factors.
7 y/o M recurrent bruising, hematuria, & hemarthroses, ↑ PTT that corrected w/ mixing studies* Txt?
VitK def
↓ II, VII, IX and X (Same as CF kid with malabsorbtion)
Txt: FFP acutely + vitK shot
1wk old newborn, born at home, comes in with bleeding from the umbilical stump & bleeding diathesis. Txt?
1st: VII, so PT increases 1st
Not: VIII and vWF b/c they are made by endothelial cells.
9 y/o F with Wilson's disease developed fulminant liver disease. 1st factor depleted? 2 factors not depleted?
Hemolytic Uremic Syndrome
A 3 y/o child is brought in with petechiae, abdominal pain, vomiting and lethargy. He had bloody diarrhea 5 days ago after eating hamburgers at a family picnic. Labs reveal thrombocytopenia and ↑creatinine
E. Coli O157H7
Shigella
Salmonella
Campylobacter
Most common cause of HUS?
NO platelets! Tx w/ aggressive nutrition (TPN) and early peritoneal dialysis.

Don't give abx for bloody diarrhea. Can ↑ risk of HUS
Txt for HUS?
Henoch Schonlein Purpura

Most common cause? Usually follows URI
Treatment? Symptomatic treatment. Can use steroids for GI or renal dx.
A 5 y/o child is brought in with purpura on his legs and buttocks, abdominal pain, joint pain, current jelly stool. His smear appears normal, as are his coagulation studies and electrolytes. IgA and C3 are deposited in the skin.
Brain tumor. Most likely infratentorial
New onset seizure, ataxia and HA worse in the AM with vomiting for a month.
Pilocytic astrocytoma of cerebellum.
Resect:~90% survive
Most common childhood brain tumor?
Medulloblastoma.
Vermis, obstruct 4th V
2nd most common childhood brain tumor?
Craniopharyngioma
Suprasellar A remnant of Rathke's pouch.
Adolescent with height in 5th %, w/ bitemporal hemianopsia. See calcifications in sella turcica.
Wilm's tumor

Best test: Abdominal CT. Do CXR to check lung involvement
Assoc w/ Aniridia, GU anoms, Hemihypertrophy, Beckwith-Weidemann
Txt: Surgery, chemo, rads
2 year old hypertensive child with asymptomatic abdominal mass.
Workup?
Associations?
Txt?
Neuroblastoma

↑urine homovanillic or vanillylmandelic acid.
4 year old with jerking movements of eyes and legs, bluish skin nodules and a tender abdominal mass
Diagnostic tests?
ALL

Best test: Bone marrow biopsy--> >30% lymphoblasts
Txt: VDP + CNS tx w/ intrathecal methotrexate
Poor prognostic factors: <1 or >10, >100K WBC
3 year old girl w/ a limp & left leg pain, T99.9, HSM, petechiae, & pallor. Cells are CALLA and TdT +.
Best test? Txt? Prognosis?
Hodgkin Lymphoma

Best test: excisional bx, and then staging CT or laparoscopy to determine txt
Txt: chemo + rads, 90% cure if stage I or II
14 y/o boy w/ enlarged, painless, rubbery
nodes, drenching fevers, and 10% weight loss.
Best test? Txt?
Non-Hodgkin Lymphoma

Best test: Biopsy of mass, bone marrow bx for staging
Treatment: Surgical excision if abdominal tumor. Can use anti-CD20 if B-cell tumor. Rads for some.
7 year old girl with non-productive cough and large anterior mediastinal mass on CXR.
Best test? Txt?
Roseola
(HHV6)
2y/o w/ a fever to 105
3 days later gets a pink, maculopap rash on trunk arms and legs.
5th Disease/Erythema Infectiosum
(Parvovirus B19)
2y/o w/ a low grade fever, lacy reticular rash on cheeks and upper body (spares the palms/soles)
Scarlett Fever
(group A strep)

Txt: PCN prevents rheumatic fever. Won't help reduce changes of APSGN
Fine, mac-pap desquamating rash begins on chest and spreads to neck, trunk, & extremities + strawberry tongue. Sore throat 1-2wks prior. Txt?
Measles
(paramyxovirus)

Txt: Vitamin A + supportive care
Cough, runny nose, fever
--> macular rash begins behind ears & spreads down. Gray spots on the buccal mucosa. Txt?
Rubella
(paramyxovirus)
Sore throat, joint pain fever
-->pinpoint rash on the face and spreads down. Rose spots on the palate.
Hand-Foot-and-Mouth Disease
(Coxsackie virus A16)
Baby w/ poor feeding. Vesicles in mouth on palms and soles + rash on buttocks
Mumps
(paramyxovirus)

Complications: orchidis and sterility
16 year old M with swollen parotid glands, fever & HA. Complications?
Lyme Dx
(Borrelia burgorferi)

Complications: arthritis, heart block, meningitis, Bells palsy
Txt: Amoxicillin. Doxycycline if >8yo
6y kid from central PA who went camping has fever.
Complications? Txt?
Rocky Mountain Spotted fever.
(Rickettsia rickettsii)

Complications: Vasculitis and gangrene
Txt: Doxycycline no matter what age
6y/o kid from coastal NC, went camping. Had fever, myalgias, abd pain.
Complications? Txt?
Scabies
Txt: 5% Permetrin for whole household
8yo kid, multiple excoriations on arms, itchy at night. Txt?
Impetigo
(most common bug is Staph if bullous)

Txt: topical Muciprocin if localized
Honey-colored crusted plaque on face. Txt?
Staph Scalded Skin Syndrome
from exfoliative toxin

Txt: IV Oxacillin or Nafcillin
Inflamed conjunctiva and multiple blisters. Nikolsky's +
Txt?
Strep Pneumo
H. Influenza
N. meningitidis

Txt: Ceftriaxone and Vancomycin
Meningitis bugs in kids? Txt?
Listeria, Txt: Ampicillin
Staph, Txt: Vancomycin
Meningitis bugs in immune suppressed? s/p brain surgery?
Rifampin!!
Txt for roommate of the kid in the dorms who has bacterial meningitis
and petechial rash?
Otitis Media

Most sensitive dx test? Limited mobility on insufflation or air-fluid level
Risks? ↓SES, Native Americans, formula fed, tobacco smoke, around kids
Treatment? Amoxicillin or azithromycin for 10days. If no improvement in 2-3
days, switch to amox-clav (augmenting)
Complications? Effusion - place tubes if bilat effusion >4mo or if bilateral hearing loss.
2 y/o w/ fever to 102, tugging on his right ear. Patient's tympanic membrane is red and bulging.
Dx? Risk factors? Txt? Complications?
Otitis Externa

Txt? Topical Ciprofloxacin
Complications? Malignant external otitis-->can invade to temporal bone-->facial paralysis, vertigo. Need CT and IV abx. May need surgery
12y/o in summer swim league has pain when adjusting his goggle straps behind his ear. Thick exudates coming from the ear and tender posterior auricular nodes.
Txt? Complicaitons?
GABHS Pharyngitis

Dx: rapid strep antigen, send culture if negative and high clinical suspicion
Txt: PCN or Erythromycin to prevent Rheumatic fever
7y/o w/ exudative pharyngitis w/ tender cervical lymph nodes and fever of 102.
Dx? Txt?
Retropharyngeal abscess

Txt: I&D for C&S. GAS + anaerobes --> 3rd gen cephalosporins + Ampicillin or Clindamycin
Complications: Retropharyngeal space communicates with mediastinum --> mediastinitis
A child presents w/ "muffled voice", stridor and refuses to turn her head to the left.
Txt? Complications?
Peritonsillar abscess

Txt: Aspiration or I&D + Abx
Tonsillectomy if recurrent, >5 episodes of Strep/yr for 2yrs, or >3 episodes/yr for 3yrs
A child presents w/ "hot potato voice" and upon throat exam her uvula is deviated to the right 2/2 a bulge.
Txt?
Epstein-Barr virus

Dx: blood smear shows atypical lymphocytes. + Heterophiles Ab (Monospot) test
Txt: rest and symptomatic
Caution: splenic hemorrhage or rupture (most in 2nd week) -> no contact sports until splenomegaly resolves
Older kid w/ sore throat, fever, fatigue, generalized adenopathy and splenomegaly (anterior and posterior cervical nodes).
Dx? Txt? Complications?
Maculopapular rash (immune mediated vasculitic)
What happens if you give an EBV pt Ampicillin or Amoxicillin?
Croup (Parainfluenza virus)
"steeple sign"
Txt: mist, epinephrine nebs, steroids
1 y/o w/ fever to 100.5 & "barking" cough and loud noises on inspiration.
Bug? Txt?
Epiglottitis
(H. flu B in unimmunized, Strep pyo, Strep pneumo, Staph)
"thumbprint sign"
INTUBATE IN OR!!!
Txt: anti-Staph Abx + 3rd gen cephalosporin
2 y/o w/ fever to 104 & drooling w/ intercostal retractions and tripod position.
Bug? Txt?
Acute Bronchitis

Supportive txt w/ anti-pyretic, tussives, histamines
Kid comes in w/ cough productive of yellow-green sputum, runny nose and T100.8. Lung exam only reveals some
coarse rhonchi. Txt?
Pneumonia
Dx: CXR, typical vs atypical
Kid comes in w/ cough productive of yellow-green sputum, runny nose and T100.8. Lung exam reveals decreased breath sounds and crackles in LLL. WBC = 16K. Dx?
GBS
E coli
Listeria
Most common cause of pneumonia in neonates <28d?
C. trachomatis
RSV
Parainfluenzae
Strep pneumo
Most common cause of pneumonia in 1-3mo?
Staccato cough
eosinophilia
Findings specific for chlamydia pneumonia?
VIRAL (RSV) then Strep pneumo
Most common cause of pneumonia in kids 4mo-5yo?
Mycoplasma
Strep pneumo
Most common cause of pneumonia in kids >5yo?
Bronchiolitis

CXR: hyperinflation w/ patchy atelectasis
Bug: RSV, confirm w/ swab
Txt: hospitalize if respiratory distress, albuterol nebs, NO steroids
Ppx: Palivizumab for premies, CHD, lung dx, immune dx
9mo infant w/ runny nose, wheezy cough, T = 101.5, and RR = 60. Retractions are visible and pulse ox is 91%. CXR? Bug? Txt?
Whooping cough
(Bordetella pertussis)

CBC: lymphocytosis
Txt: Erythromycin x14d. Treat family members and daycare peers.
9mo infant with severe coughing spells with loud inspiratory whoops and vomiting afterwards. 2 weeks ago she had runny nose and dry cough.
Dx? Bug? Txt?
Vesiculoureteral reflux
Give ppx Abx
Anatomic risk factor for UTI?
clean catch or cath sample, UA, UCx (>10K CFU)
US: any febrile UTI for anatomy, abscess, or hydronephrosis
Diagnosis of UTI?
PO Bactrim or Nitrofurantoin
Txt of UTI?
IV Ceftriaxone or Ampicillin + Gentamicin x14d
Txt of pyelonephritis?
all males
females <5yo
any pyelonephritis
females >5yo w/ 2nd UTI
Who needs VCUG s/p UTI?
Most sensitive and accurate study of scarring and renal size, but not first line for UTI workup
Tc-labeled DMSA scan?
Trauma
Dev hip dysplasia
Legg-Calve-Perthes Dx
Transient Synovitis
SCFE
Osgood-Schlatter
JRA
Kawasaki
DDx for limp?
Developmental hip dysplasia
Dx: "clunk" on Barlow, US of hip if unsure
Txt: Pavilk harness, surgery
Risks: 1st born, FHx, breech
18mo F w/ asymmetric gluteal folds on exam.
Dx? Txt? Risk factors?
Legg-Calve-Perthes Disease
avascular necrosis
5 y/o M initially w/ painless limp now has pain in his thigh.
Transient Synovitis
Txt: bed rest x1wk + NSAIDS
5 y/o M initially w/ a cold 1wk ago now presents w/ a limp & effusion in the hip. X-rays are normal and ESR is 35 (↑), T = 99.8, WBCs = 10K. Txt?
SCFE (Slipped Capital Femoral Epiphysis)

Txt: surgically close and pin epiphysis to avoid osteonecrosis
14 y/o lanky M w/ nagging knee pain and
decreased ROM of the hip on exam. Txt?
Osgood-Schlatter
overuse injury from jumping
14 y/o basketball player has knee pain and swelling of the tibial tubercle.
JRA

+ANA good prognostic factor
+RF poor prognostic factor (also polyarticular and older age of onset)
Txt: NSAIDs > Methotrexate > Steroids
12 y/o F w/ 2 wk history of daily fevers to 102 and a salmon colored evanescent rash on her trunk, thighs and shoulders. Her left knee and right knee are swollen.
Prognostic factors? Txt?
Kawasaki Dx
Labs: ↑plts (wk2-3), ↑ urine WBC, ↑LFTs, ↑CSF protein
Workup: 2D Echo and ECG --> repeat Echo after 2-3wk of txt
Txt: IVIG +ASA --> ASA + Warfarin
Complications: coronary artery aneurysm or MI
2y/o F w/ a 2 wk history of daily fevers to 102 and a desquamating rash on the perineum. She has swollen hands and feet, conjunctivitis and unilateral swollen cervical lymph node.
Lab results?
Further workup?
Txt?
Complications?
Ewing sarcoma
More common if hx of retinoblastoma or previous radiation.
Txt: Rads and/or surgery
Bone pain, <10yo, M>F. "Onion skinning" on xray. (layers of periosteal development). Txt?
Osteogenic sarcoma
Txt: Chemo and/or surgery
Bone pain, >10yo, M>F.
"Sunburst" and "Codman's sarcoma
triangle" on xray. Txt?
Leukemia
bone pain can be the presenting sx for leukemia
Diffuse bone pain in a pt w/ petechiae, pallor, and increased infections?
Dandy-Walker malformation

CT or MRI: Cystic expansion of 4th ventricle. Can see Agenesis of cerebellar vermis.
Infant with increasing head size, prominent occiput, cerebellar ataxia and delayed motor development. What will you see in imaging?
Febrile Seizure

Give Acetamenophen. No increased risk for epilepsy
This morning, a 1 y/o develops a fever to 102.4. Four hours later, the parents bring her in after she has a 3-4 minute tonic-clonic seizure. Next best step?
Absence Seizure

EEG: 3Hz spike and wave discharge
Txt: Ethosuxamide or Valproate
An 8 year old boy gets in trouble in school because he is always "staring into space". These episodes last only seconds, have lip smacking, and he goes right about his business after they are done. Imaging? Txt?
Infantile Spasms
EEG: Hypsarrhythmia = asynchronous, chaotic, bilateral
Txt: ACTH > Prednisone
A 6mo old is brought in for multiple symmetric contraction episodes of neck, trunk and extremities that occur in spells. Imaging? Txt?
Friedrich Ataxia
AR, trinucleotide repeat

Most common cause of death is HOCM --> CHF
8y/o w/ difficulty w/ balance while walking, no DTRs, bilateral Babinski and "explosive, dysarthric speech". Most common cause of death?
Metachromatic leukodystrophy

AR, deficiency of Arylsulfatase A --> accumulation of cerebroside sulfate
2y/o w/ gait disturbance, loss of intellectual fxn, nystagmus and optic atrophy. Cresyl violet --> metachromatic staining.
Adrenoleukodystrophy

XLR
Death w/in 10yrs
12y/o w/ decreased school performance, behavior changes, ataxia, spasticity, hyperpigmentation, ↑K, ↓Na, acidosis. Prognosis?
Tay-Sachs

XLR, deficiency of hexosaminidase A --> accumulation of GM2
9mo who had previously been reaching milestones starts to lag. Seizures, hypotonia, cherry red macula.
SMA 1-Werdnig-Hoffman Dx
most die before age 2yo
3mo infant lays in the "frog-leg" position, <5th% 2/2 feeding difficulties, hypotonic, fasiculations of the tongue and absent DTRs.
Marie-Charcot-Tooth Dx

Tests: decreased motor/sensory nerve velocity, dural nerve biopsy. nml CPK
Txt: stabilize ankles w/ surgical fusion, usually normal lifespan, most remain ambulatory
6y/o is brought in 2/2 "clumsiness" and frequent falls. The lower leg has decreased muscle bulk and appears "stork- like". There are multiple small injuries on the hands and feet. You notice pes cavus and claw hand.
Tests? Txt?
Disease associated with ASD
Holt Oram syndrome (absent radii ASD, first degree heart block)
Fetal Alcohol Syndrome
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