208 terms

Pediatrics Case Files

Cases 1-60
12-month old girl has poor weight gain, but physical exam is normal. Next step? Dx?
Next step = Obtain patient history, especially dietary and social histories. Thereafter, lab screening tests, dietary counseling, and close weight-watching are appropriate.
Dx = Failure To Thrive (FTT): suspected when growth is below the 3rd to 5th%, or if growth drops more than 2 major percentiles in a short time.
1) Non-organic FTT vs. Organic FTT? 2) Name a common cause of FTT caused by the kidneys and its Tx.
1) Non-organic FTT (most common) is poor growth without a medical etiology, i.e. poverty or poor care-giving. Organic FTT is poor growth caused by an underlying medical (organic) condition; realize this can be assoc. with any organ system.
2) Renal Tubular Acidosis Type 2; give oral bicarbonate.
How much nutrition (answer in kcal/kg/d) is appropriate for FTT and healthy newborns?
Healthy infants in the 1st year of life require ~120 kcal/kg/d of nutrition, and about 100 kcal/kg/d thereafter. FTT kids require an additional 50-100% to ensure good growth.
An infant presents with developmental delay, growth retardation, cataracts, seizures, HSM, and purpura. DDx?
DDx = CMV or Toxoplasmosis. On Head MRI, calcified densities are found periventricularly (CMV) or scattered (Toxoplasmosis).
An adolescent male presents with significant behavioral changes at home, a decline in school or work performance, and involvement with the law. Most likely Dx? Next step?
DDx = substance abuse, bipolar disorder, brain tumor.
Next step = Obtain more history, UDS (urine drug screen), and other commonly assoc drug abuse consequences (like STDs and hepatitis). If negative, pursue psych eval and possible brain imaging.
A 14y.o. had ataxia, euphoria, emotional lability, nystagmus and is abusive. Most likely drug?
PCP (Phencyclidine). Nystagmus and belligerence are hallmarks of PCP.
An 11y.o. female has fever, dilated pupils, tachycardia, facial flushing, and hallucinations. Most likely drug?
LSD. LSD is known for it's "bad trips"--patients become terrified and panicked.
1) Most commonly used drugs in adolescence? 2) Most commonly used illicit drug in adolescence?
1) Cigarettes and alcohol; 2) marijuana
List the three main risk factors for drug use in adolescence.
Significant behavior problems, learning difficulties, and impaired family functioning.
A 36y.o. woman with little prenatal care delivers a AGA baby girl that has hypotonia, upslanting palpebral fissures, epicanthal folds, redundant nuchal skin, and fifth finger clinodactyly. Dx? Next step?
Trisomy 21 (Down Syndrome). The baby may also have brachydactyly with an associated single palmar crease, Brushfield iris spots, and a flat face. Next step = obtain chromosomal analysis for confirmation, provide counseling, and evaluate for other features of the syndrome.
What prenatal measures could a mother receive to check for Trisomy 21? What are the findings?
Triple screen at 15th and 20th weeks: The AFP and estriol would be 25% decreased and hCG doubled. Amniocentesis and chorionic villous sampling can provide chromosomal analysis. Ultrasound can be performed and show increased nuchal translucency.
What are 2 life-threatening issues that need to be immediately assessed in Trisomy 21? List some other things associated with DS.
Cardiac defects (endocardial cushion defect > VSD > ToF) and duodenal atresia (upper GI study will show a "double-bubble" sign). Further, hypothyroidism, hearing loss, and eye strabismus should also be screened in the first year of life. Also, ALL, Alzheimer's, and Atlantoaxial instability are all concerns.
A newborn has scalp cutis aplasia (missing portion of the skin and hair), polydactyly, holoprosencephaly, small HEJ (head, eyes, jaw), and a sloping forehead. Dx?
Trisomy 13 (Patau Syndrome). Realize a single umbilical artery and cleft lip/palate are common to both Trisomy 13 and 18.
A newborn has a single umbilical artery, a weak cry, clenched hands with overlapping digits, a small jaw and mouth with a high arched palate, and rocker-bottom feet. Dx?
Trisomy 18. A weak cry and the clenched hands are good clues that it is Edward's syndrome.
A child presents with LAN, HSM, weight loss, oral candidiasis, and recurring infections. Dx?
Immunodeficiency. This can be a primary immunodeficiency due to an inherited defect (present at birth) or secondary due to an HIV, malignancy, etc (present after an illness/infection). Always consider immunosuppression in kids that are FTT or have difficult-to-eradicate infections.
A HIV+ female is pregnant. How do you treat mom during the pregnancy and the newborn after delivery?
Mom should receive Zidovudine (AZT) at least by the second trimester and the newborn gets AZT through the first 6 weeks of life. This reduces transmission to < 10%. NOTE: HIV is typically acquired thru vertical transmission, but can still be passed on to baby at delivery and during breast-feeding thru infected secretions.
What tests are used to determine if a patient is HIV+ in patients younger and older than 18 months?
If <18 months old, PCR is used.
If >18 months old, use ELISA first then Western Blot to confirm.
If a newborn still ends up being HIV+ after AZT prophylaxis was given for 6 weeks, what should the baby now receive at 6 weeks of age? What vaccines shouldn't these patients get?
Combination retroviral therapy (2 NRTI's + 1 protease inhibitor) and trimethoprim-sulfamethoxazole (for PCP prophylaxis). HIV+ patients should not receive live vaccines (influenza, MMR).
A 6-week old baby has his umbilical cord still attached and shows evidence of delayed wound healing. Dx?
LAD (Leukocyte adhesion deficiency). Marked neutrophilia is present because WBCs are unable to leave the blood.
A 2-hour newborn has micrognathia and just had a seizure. A CXR shows marked hypocalcemia, a boot-shaped heart and no apparent thymus. Dx?
DiGeorge Syndrome due to a chr 22 deletion. DiGeorge results from failure of the 3rd and 4th pharyngeal pouches to develop, thus no parathyroid and thyroid glands (thus hypocalcemia that can cause seizure, thymic agenesis, and no T-cell production). Patients have velocardiofacial defects such as VSD and Tetralogy of Fallot!
An immature and insecure 13-year old male with hypogonadism, long limbs, gynecomastia, and difficulties in learning. Dx? Next step? Tx?
Klinefelter's Syndrome. Obtain chromosomal analysis; it is often 47,XXY caused by paternal > maternal nondysjunction. NOTE: Consider this diagnosis for all boys (regardless of age) who have mental retardation or social/school problems. Tx involves replacement therapy with a long-acting testosterone beginning at 11 or 12 years of age ideally.
A 15 y.o. female with primary amenorrhea, < 5th% for height, and a low hair hairline. At birth, she had edema of the neck and feet. Dx?
Turner's syndrome. These patients can also have coarctation of the aorta, a horseshoe kidney, and a broad chest. Mental development is normal. A common finding is weak or absent lower extremity pulses due to the aortic coarctation!
An institutionalized male juvenile deliquent has nodulocystic acne, a prominent glabella, an explosive temper, and a low-normal IQ. Dx?
XYY male. By age 6, these patients tend to be taller than their peers and begin having defiant behavior.
A 6-month old child is fed exclusively goat's milk. What supplements should his PCP advise for him to take? Why?
Goat's milk is low in folate/vitamin B12 and iron which can cause megaloblastic anemia and iron deficiency in the newborn, respectively. Goats are also susceptible to brucellosis thus its milk must be boiled before ingestion. NOTE: Vegan mothers must supplement breast-feeding with vitamin B12.
Breast-milk offers antimicrobial properties such as _____ and ______. However, disadvantages of breast-milk include potential HIV transmission, jaundice exacerbation, and low vitamin __ and in ______ & _________.
Antimicrobial properties include IgA and macrophages. Breast milk is also low in vitamin D, fluoride and iron, which are usually supplemented at least for the first 6 months of life. Infants should be exclusively breastfed for the first 6 months of life, and then continue to breastfeed for another 6 months but this can be complemented by introduction to solid foods.
A 6-month old infant is FTT, even after his mom tried 3 different formulae. The child is pale, emaciated with little subQ fat and anterior fontanelle fullness. His lab results are notable for hemolytic anemia and prolonged bleeding times. What should you test for?
Cystic Fibrosis via a sweat test. This patient has deficiencies of vitamin K (prolong bleeding), vitamin A (anterior fontanelle fullness, inc ICP), and vitamin E (hemolytic anemia). Vitamins ADEK are fat-soluble.
An 8-month old presents with a large red bulge over her femur after she received a shot and cries when you touch it. She had a failed Kasai procedure for biliary atresia earlier in life. What's the MOA for her fracture? Next step?
Malabsorption of vitamin D (and other fat-soluble vitamins) due to lack of intestinal bile salts resulting in Rickets. In addition to an x-ray, next step is to get serum levels: low 25(OH) Vit D, low-normal Ca and Phos, and highly elevated AlkPhos levels.
What disorder has defective phosphate reabsorption and deficient conversion of 25(OH)D to 1,25(OH)D in the proximal kidney tubules? Inheritance pattern?
Familial, Primary hypophosphatemia is the most common form of non-nutritional rickets and is X-linked dominant. Children at the age of walking present with leg-bowing, a waddling gait, and short stature. Other findings of calcium deficient rickets are not seen (i.e. rachitic rosary, Chvostek and Trosseau signs).
A 5-year old girl has mild leg bowing and abnormal bone age for her ulna and distal radius. Calcium, phosphorus, AlkPhos, and urinary amino acid concentrations are all normal. Dx?
This is a classic presentation for Schmid metaphyseal dysplasia, an autosomal dominant disorder.
A 10-year old male presents with lethargy, vomiting and abdominal pain. Mom notes he has had nocturnal enuresis for the last week and lately takes big deep breaths to breathe. Dx? Next step?
DKA in a undiagnosed diabetic. Next step is IV normal saline for rehydration, administer insulin, and monitor blood glucose and acidemia. Although the patient's intracellular K+ is depleted, serum levels are high/normal. Note that improvement in acidosis levels is associated with a fall in serum K+. Thus, potassium is added to IVF but only after urine output occurs (No K+ before Pee).
A known diabetic goes into DKA. He has had a productive cough and fever the last 2 days. It's important to evaluate this patient for what? Extra--What is a complication of DKA that can present with headache, personality change, vomiting, and decreased reflexes?
Bacterial infection because it can precipitate DKA. Extra--Cerebral edema.
If you're allergic to egg, what shots can't you receive? What shots can't be given to pregnant or immunocompromised patients?
True contraindications to receiving immunizations are rare, but do include immediate hypersensitivity to vaccine components such as egg. Allergy to egg is a contraindication to influenza and yellow fever. In general, live virus vaccines are not given to preggos/immunocompromised patients
When should a baby be able to track and follow? sleep through the night? roll over? sit and drink juice?
Track and follow by 1 month of age, sleep through the night by 3 months of age, roll over at 4 months and sit/drink juice at 6 months.
True or False: Conditions that are not contraindications for vaccines are mild URI, gastroenteritis, and low-grade fever.
True. These are all not contraindications to receiving a vaccine.
It is in fall/winter and a 4 year old boy presents with fever, productive cough, and tachypnea. Coarse breath sounds are heard in all lung fields (rales) alongside bibasilar end-expiratory wheezes. Dx? Next step?
Pneumonia (=LRTI) is a likely diagnosis that's made clinically + CXR. Thus, next step is CXR, pulse ox, and selected lab tests (CBC, cultures, nasal wash for antigens). ABCs are applied. Note a pulse ox is helpful because oxygen may be required in pts w/ PNA due to respiratory compromise (intubation is even used sometimes).
What is the difference in onset of bacterial pneumonia versus viral pneumonia? Compare bacterial/viral/mycobacterial pneumonia CXRs.
Bacterial PNA progresses rapidly over a few days with high fever and is often lobar on CXR. Viral infection may develop more gradually and CXR shows air trapping with flattened diaphragms. Finally, mycobacterial PNA (atypical PNA) will have an interstitial pattern.
In the first few days of life, what infectious etiologies are you most concerned with?
Baby BELsSS are the most concerning: Group B strep, E. coli, Listeria, and HSV. Also consider Staph, Strep pneumo, enterovirus, influenza and RSV. In the first few months of life, if baby has staccato cough, conjunctivitis or mom chlamydia positive, consider Chlamydia trachomatis. These babies will have eosinophilia and bilateral infiltrates with chest hyperinflation.
1) A newborn has conjuctivitis and staccato cough, and is positive for chlamydia--what do you treat with?
2) A newborn has pneumonia and cultures are pending (PCR for viruses are negative), what do you treat with?
3) A newborn has HSV meningitis, what do you treat with?
1) Erythromycin 2) Ampicillin + gentamicin or cefotaxime. 3) Acyclovir
In toddlers thru kids 5 years of age, viral pneumonia is common and will have interstitial markings on CXR. List some common viruses. What test can you do to confirm viral etiology?
Adenovirus, rhinovirus, RSV, influenza, and parainfluenza. PCR (nucleic acid amplification) of secretions from nasal swab can confirm viral etiology. Realize however about 20% of viral PNA have concomitant bacterial PNA!
Kids older than 5 years of age with pneumonia are most infected with what? Tx?If the patient is on a ventilator, what 2 etiologies should you consider?
1) Mycoplasma pneumoniae; Tx is macrolides or cephalosporins. 2) Pseudomonas aeruginosa or fungal species (Candida)
If PNA patient has been... spelunking? exposed to cattle? traveled to Southwest USA? exposed to stagnant water + is hyponatremic? has cystic fibrosis? has bloody sputum/fever/cough/weight loss/night sweats?
Histoplasma; Coxiella; Coccidioides; Legionella; Staph initially, then Pseudomonas; M. tuberculosis
A 3-year old previously healthy child was helping her father spray for bugs when she suddenly developed salivation, tearing, respiratory distress, and urine incontinence. Dx? Tx?
The muscarinic symptoms seen suggest organophosphate poisoning (MOA: irreversibly binds/inhibits cholinesterase). Poisoning occurs across skin or mucous membranes, inhalation or ingestion. The child should be decontaminated (take poisoned clothes off and wash skin) and should receive atropine + pralidoxime. Atropine is an anticholinergic and pralidoxime reactivates cholinesterase.
A 14-year old patient was visiting the coast with her family and had fish for dinner. Thereafter she developed a wobbly gait (ataxia), couldn't speak clearly (dysarthria), and had pins-and-needles sensation (paresthesia). Dx?
Methyl mercury intoxication from contaminated fish.
An 8-year old girl has a positive NAAT (nucleic acid amp test) for N. gonorrhea. She discloses that her mother's boyfriend sexually abuses her. Management? Next steps?
The test for N.gonorrhea first must be confirmed by a second NAAT that amplifies a different gene sequence or by culture, and since there was genital-genital contact--other STD testing is warranted (HIV, chlamydia, trichomonas, syphilis). CPS or law enforcement MUST be notified in abuse cases. Gonorrhea treatment = 1 dose of IM ceftriaxone.
By age 18, 1 in 4 women and 1 in 6 men are sexual abuse victims. What percentage of sexually abused kids have signs of physical trauma on examination? How many have victims have STDs?
Only 25% of these patients have signs of sexual abuse on physical exam, and even fewer have STDs. Realize that when injury does occur, it may be non-specific (i.e. erythema). Remember if the patient is a female of child-bearing age--always get a pregnancy test.
A 7-year old girl has itching for 1 week in her "private parts", abdominal pain, and a decreased appetite for a month. History excludes sexual abuse, contact dermatitis, and skin disorders. Exam is normal except mild perianal erythema. How do you make this diagnosis? Tx?
Dx = Cellophane tape on perianal area with microscopy will pick up Pinworm eggs (Enterobius vermicularis)--do this early in the morning. Tx = Mebendazole or pyrantel pamoate--note: family members who sleep in the child's bed should also be treated.
A 5-year old child complains of ear pain and malaise. He has a temperature of 102 and has had a cold for several days. Dx? Tx?
Dx = AOM (Acute Otitis Media). Tx = oral antibiotics
Name the three most common pathogens that cause AOM. What does the characteristic AOM tympanic membrane look like? Treat with what?
Strep pneumo > non-typeable H. flu > moraxella. The characteristic TM is red and bulging, and does not move well with pneumatic otoscopy. Treat with amoxicillin 80-90mg/kg/d and pain medication prn for 7-10 days.
Two months after an episode of AOM, a 4 year old male still has middle ear effusion but isn't causing the child any hearing problems. Next step in management?
Observation is the usual response. However, if the fluid does not resolve or recurrent episodes of suppurative OM occur, myringotomy with PE tubes is often used.
An 8-year old boy has severe pain with ear movement. He has no fever/n/v/d or other symptoms. He's been in good health and just returned from summer camp where he rode horses and swam. PE reveals a red, tender pinna but a normal TM. Dx? Tx?
Dx is otitis externa (swimmer's ear) and treatment includes administration of topical mixture of polymyxin and corticosteroids. Usually the causative agents are pseudomonas, staph, and occasionally fungi.
At 1 minute, a newborn has a pink trunk but his extremities are blue, his HR is 120, showing some flexion of extremities, a facial grimace but not coughing, and is showing a good respiratory effort. What is the APGAR score?
7. APGAR stands for Appearance (color), Pulse (heart rate), Grimace (reflex irritability), Activity, and Respirations. Appearance--baby is all pink (2), trunk is pink but extremities blue (1). Pulse--above 100 (2), below 100 (1), absent (0). Grimace--cough or sneeze (2), grimace (1), no response (0). Activity (muscle tone)--flexed and moving (2), some flexion (1), limp (0). Respiratory effort--good, crying (2), slow and irregular (1).
A full term baby is lethargic and has a HR of 40. O2 was given via bag & mask, and he was intubated but his HR remained at 40. Next step?
Begin chest compressions whenever the HR is still less than 60 bpm despite PPV with 100% oxygen.
A term infant is born after an uncomplicated pregnancy. She appears in respiratory distress and dusky when she stops crying; when she cries she is pink. Probable etiology?
Choanal atresia is a possible etiology since infants are obligate nose breathers. Choanal atresia is identified by passing a feeding tube thru each nostril and confirmed if it meets resistance in the nose. Surgery is required.
After delivery, a newborn has heart sounds on the right side of his chest and has a scaphoid abdomen. Breath sounds are not heard in the left lung fields. Diagnosis?
Diaphragmatic hernia. Scaphoid abdomen and decreased unilateral breath sounds are hallmarks. Further, bowel sounds may be heard on the affected side of the chest.
A 12-month old child drags his legs rather than using a four-limbed movement when he crawls. She says he only recently began crawling and cannot pull to a stand. At 6-months of age he hadn't yet rolled over nor sitting. On exam today, you note he positions his legs in a "scissoring" posture when held by the axillae. Initial step? Next step? Dx?
Initial step: Gather more detailed histories (pregnancy, birth, family, etc), especially developmental questions. Most likely diagnosis is Cerebral palsy. Next step: vision/hearing testing, consider brain MRI, and arrange session with developmental specialist.
Cerebral palsy is a non-progressive disorder of movement and posture that results from antenatal insults to the immature CNS (thus it is not a peripheral neuropathy or myopathy). Approximately how many pts are mentally retarded? how many have seizures?
Cerebral Palsy (CP) is the most common childhood movement disorder with 1-2 cases per 1000. Approximately 30% of CP patients have seizures, and approximately 60% are mentally retarded. EEG and cognitive testing can be done to evaluate each of these respectively.
A Caucasian term infant develops bilious vomiting and abdominal distention at 10 hours of age. No stool passages have been noted. AXR reveals distended bowel loops and a "bubbly" pattern in a portion of the intestine and the colon is narrow. Dx?
Probably more so cystic fibrosis than Hirschsprung's based on this x-ray. Meconium ileus, as seen here, is the earliest sign for CF and is a surgical emergency. It is nearly pathognomonic for CF.
A 5-year old with history of recurrent sinusitis and pneumonia comes into your office because of a recently discovered nasal polyp. Mom says he has very foul-smelling stools, his fingers are clubbed, and has had rectal prolapse in the past. Next step?
Obtain family history and order a sweat test. The defective protein in Cystic Fibrosis is the Delta-F508 (deletion of phenylalanine at amino acid 508) on chromosome 7. CF patients have such thick mucus that it causes a cycle of obstruction, inflammation, and infection. Further, these patients have pancreatic exocrine deficiency and boys have azoospermia. CF patients initially will get a Staph PNA then Pseudomonas PNAs. A negative sweat test doesn't exclude CF.
A 4-year old boy has a 1-week history of joint pain and limping but no recent trauma. He has a low-grade fever, HSM, and petechiae on his face and chest. Dx? Next step?
Most likely diagnosis is ALL. Next step in evaluation is obtain a CBC with platelets and differential; bone marrow biopsy is required to confirm ALL. Leukemia is the most common childhood cancer (about 40% of all childhood cancers). Worse prognostic factors include age <1 or >10, mature T/B-cell (versus pre-B/T), WBC count >50,000, male gender, and Afr-Amer/Hispanic descents.
In a work-up for a child with ALL, what other procedures/imaging should you get? What is the treatment?
CXR--see if any mediastinal involvement (more prominent in T-cell). Lumbar puncture--examine CNS for any leukemic involvement. Bone x-rays--if abnormal findings, worse prognosis.
Induction therapy for 4 weeks = glucocorticoids, asparginase, vincristine. Maintenance tx for 2-3 years = MTX, 6-MP, glucocorticoids and vincristine.
A mom brings in her 4-year old son who complains of right knee pain for 2 weeks, limps a little, is fatigued, and fever to 100.4. What's the most important lab test to get?
CBC with differential and platelets. This patient has symptoms of JRA and leukemia thus a CBC is the best initial screening test. JRA will have a normal CBC with no blast cells; ALL will have >5% blasts on peripheral blood smear.
An 18-year old mom with no prenatal care delivers a baby via emergency C-section. The baby is 4500g, dusky gray, not breathing, and has a HR of 100. Dx? Next step?
Infant of a diabetic mother. Next step is ABCs and to check for hypoglycemia. Diabetes (>100mg/dL glucose in a fasting state) occurs in 3% of pregnancies. Women are screened for gestational diabetes between 24-28 weeks.
What is the mechanism behind macrosomia in infants of diabetic mothers? What sequelae can be seen?
The fetal pancreas becomes functionally significant after week 26 in gestation. Hyperglycemia in the mom causes the baby to produce a lot of insulin as a response. Insulin stimulates growth hormone, increased adipose tissue deposition, and increased glycogen deposition in many organs (except the brain--thus head circumference isn't affected). Further, with macrosomia, there is more of an oxygen demand so EPO is produced causing polycythemia, which results in hyperbilirubinemia. IDMs are at increased risk for caudal regression syndrome, CHD and NTDs.
A 3-day old Asian boy is jaundiced, breast-fed, and has a cephalohematoma. Dx? Tx? If this patient's jaundice worsened and showed signs of poor feeding, lethargy, and a poor Moro reflex--what are you considering?
Neonatal hyperbilirubinemia; Phototherapy if bilirubin is 16-18 on day two; Kernicterus.
This infant has several risk factors for neonatal jaundice: Asian, male gender, cephalohematoma, and breast-feeding. You should always think PATHOLOGY if the jaundice appears < 24 hrs after birth, if bilirubin rises greater than 5mg/dL per 24 hours, and if jaundice persists >10 days.
Full-term newborns usually have peak bilirubin concentrations of what during the second and fourth days of life? Approximately what % of breast-fed full term infants develop significant unconjugated bilirubin elevations up to 30mg/dL after the 7th day of life?
5 to 6 mg/dL; Approximately 2%. Formula substitution for breast milk for 12-24 hours results in rapid bilirubin level decrease and breast-feeding can resume without return of jaundice.
A 10-year old boy with multiple episodes of respiratory difficulty over the last 3 months presents with tachypnea, perioral cyanosis, accessory muscle breathing, slight wheezing and recent drowsiness. Mom gave him two nebulizer treatments that didn't help much. Dx? Next step?
Asthma exacerbation. Treat the patient's respiratory distress utilizing the ABCs of airway management. Initial administration of oxygen, inhaled beta-agonist, and a systemic dose of prednisone is appropriate. The noted 'drowsiness' indicates impending respiratory failure; further, note that wheezing may increase as therapy allows more air movement.
Atopy (allergies) and a family history of asthma are strong risk factors for asthma development. Further, 40-50% of kids with RSV bronchiolitis later develop asthma. What's the median age that kids get asthma?
Age 4. Asthma can be triggered by dust mites, animal dander, cigarette smoke, weather changes, URIs, and exercise. Two to four hours after acute exposure, a late-phase reaction (LPR) begins. The LPR is characterized by airway inflammation and bronchoconstriction. Asthma is different than COPD because asthma is a reversible process.
What is the step-wise approach in treating intermittent asthma? What is the step-wise approach in treating persistent asthma?
First step in treating intermittent asthma includes using albuterol (short acting beta-agonist) as needed, and if that doesn't work add a low dose inhaled steroid.
First step in treating persistent asthma includes inhaled corticosteroid plus a long-acting beta agonist (plus the rescue albuterol inhaler).
What's the diagnosis if a child establishes his growth curve at or below the 5th percentile by 2 years of age? What's the diagnosis if a child has normal growth velocity but is at or below the fifth percentile but not by age 2? What's the diagnosis for children who grow at a velocity <5 cm per year and has delayed skeletal maturation?
1) Familial short stature--this is a short child born to short parents will have normal timing of puberty.
2) Constitutional delay of growth--remember "bone age" equals "height age."
3) Growth hormone deficiency. The screening test for GH deficiency includes serum IGF-1 and its binding protein IGF-BP3.
Delivery for an AGA 36-week old premie occurred 19 hours after membrane rupture--mom received no prenatal care. Baby has sudden onset of "grunting" with a RR of 60 breaths/min. His temperature is 96.5 and is BP is low. CBC shows 2500 whites and 80% bands (low white count with left shift). Dx?
GBS pneumonia. This infant has several risk factors for GBS infection: prematurity (<37wk), membrane rupture over 18hr before delivery, and no prenatal care--other factors include intrapartum fever and previous infant with GBS infection. EXTRA--What antibiotic would mom have received during labor to prevent GBS newborn infection? IV Ampicillin.
Temperature instability, tachypnea, hypotension, and bradycardia are common findings in sepsis AND in meningitis. However, there are two other signs (i.e. vascular signs) that are manifesting in shock patients, what are they? Always order what in suspected cases of shock?
Pallor and poor capillary refill. Always order a blood culture in suspected shock patients. Further differentiating PNA and shock--pneumonia is associated with more respiratory distress signs like grunting, nasal flaring, retractions, decreased breath sounds, and cyanosis.
Organisms that commonly cause early-onset sepsis colonize in the mothers UG tract and are acquired transplacentally from an ascending infection or as the infant passes thru the birth canal. What are the 4 most common organisms?
NOTE: Early-onset sepsis is 0-7 days: treat with PCN + aminoglycoside. Late-onset is 7-90 days: treat with vanc + 3rd g ceph.
Group B strep, E.coli, Listeria, and H. flu. Remember that Group B strep is the most common cause of neonatal sepsis from birth to 3 months, and mortality as a result of GBS disease is 10%. Finally, approximately 80% of early-onset disease (septicemia, pneumonia, and meningitis) result from vertical transmission during labor.
A newborn baby was born at home. On day 2 of life, he has puffy eyelids, copious purulent ocular discharge, chemosis, and red conjuctivae. Most likely diagnosis?
Ophthalmia neonatorum refers to conjuctivitis occuring within the 1st month of life.
Days 2-5, most likely is gonorrhea conjuctivitis. Days 5-14, most likely is chlamydial conjuctivitis. Chemical conjuctivitis is self-limited and presents within 6-12 hours of birth as a result of ocular silver nitrate or erythromycin prophylaxis irritation.
A 3-month old infant is found in the morning not breathing. CPR was initiated by parents and continued by the paramedics. He was pronounced dead in the hospital. What do you do next? Diagnosis? Next step?
What you do first is say "besides everyone's best efforts, their child has died." Ask the parents if they would like you to call anyone for them (friend, family, clergy etc). Most likely diagnosis is SIDS, Sudden Infant Death Syndrome. After a period of grieving, let the family know protocol for SIDS deaths--A coroner must perform autopsy and police must exam the home for clues. Emphasize that these measures can help to bring closure for the family and may yield important information for preventing future child deaths should they have kids.
Know that apnea of infancy does not increase the risk of sudden death, and the use of home apnea monitors do not reduce the risk of SIDS.
What is the most common cause of death in kids age 1 week to 1 year? What season of the year is it most common? In what ethnicities? In what sleep position? What gender? Term or premie?
The most common cause of death in kids age 1 week to 1 year is SIDS. Risk factors include: winter months, African-Americans and Native Americans, prone sleep positions, males, and premies. Apnea is no longer considered a risk factor, however being a sibling of a SIDS victim is.
Apnea is defined as "cessation of breathing for at least __ seconds that may be accompanied by bradycardia or cyanosis." Also, what does ALTE stand for?
20 seconds. Realize kids often have episodes of apnea and it is totally normal--usually they do not long 20 seconds and will grow out of this as their brain matures.
ALTE stands for "apparent life-threatening event."
Cardiac sounds in a newborn: continuous machine-like murmur (PDA) in a premie with a widened pulse pressure, consider what infection? left-lower sternal border holosystolic murmur in a 3-month old? in a patient with Down syndrome? Fixed S2 splitting? Most common cardiac defect?
Congenital Rubella; VSD; Endocardial cushion defect (both systolic and diastolic); ASD; VSD.
Small VSDs are louder than large VSDs usually because blood is pushing up against more resistance (a smaller hole); small VSD patients are asymptomatic.
Large VSDs are accompanied by dyspnea, feeding difficulties, growth failure and profuse perspiration which all may lead heart failure (cardiomegaly on CXR). Note: Think about Greyson... FFT, on diuretics for CHF, and dyspneic--required surgery.
Children with ASDs are often asymptomatic and are discovered on routine exam. Sometimes with large ASDs, growth failure and exercise intolerance may be seen; usually ASDs are well tolerated during childhood but can lead to what problem in adulthood?
Pulmonary Hypertension.
Extra Cardiac Pearls: Acyanotic heart lesions are characterized by shunting of blood from left-to-right (systemic to pulmonary). Know these shunts can reverse overtime and cause cyanosis if pulmonary hypertension develops (Eisenmenger syndrome).
A healthy-appearing term infant suddenly loses interest in feeding at 12 hours of life and develops cyanosis, poor peripheral perfusion, and tachypnea. Physical reveals only a loud second heart sound and no murmur. Best initial management? Dx?
Administer prostaglandin E1 to maintain patency of the ductus arteriosus. Patient likely has a cyanotic congenital heart defect (i.e. transposition of the great vessels). In the first hours of life, the ductus arteriosus and the foramen ovale provide a connection between pulmonary and systemic circulation--once the DA closes, symptoms appear. TGA has an "egg on a strong" appearance on CXR and is incompatible with life.
A 4-year old child is playing and becomes cyanotic; he then assumes a squatting position which relieves his symptoms. What defects characterize Tetralogy of Fallot? What does it look like on CXR?
PROV: Pulmonary stenosis, Right Ventricular Hypertrophy, Overriding aorta (overrides the ventricular septum), and VSD. ToF has a "boot-shaped heart" on CXR.
On cardiac exam, review APT M. Diastolic "ARMS". Systolic murmurs radiate (Aortic stenosis radiates to carotids, Mitral regurgitation radiates to axilla). What are the 5 "blue baby"/early cyanotic defects/right-to-left shunts in a newborn?
The 5 T's + vowels: Transposition of the great vessels, Tetralogy of Fallot, Tricuspid Atresia, Total Anomalous Pulmonary Venous Return, Persistent Truncus Arteriosus
A 4-year old boy has 20 days of high-spiking fevers associated with a faint rash on his trunk and extremities. He has a 1-day history of refusal to bear weight. His exam shows LAN, HSM, and interphalangeal joint swelling. His CBC only is remarkable for thrombocytosis. Dx? Best test? Tx?
Most likely diagnosis is JRA, Juvenile rheumatoid arthritis. The daily high-spiking fevers associated with a characteristic rash are suggestive of systemic JRA. Arthritis may develop after other symptoms begin, even months or even years into the disease course. For cases where arthritis first appears in the disease course, leukemia is a consideration. There is no lab studies that are diagnostic of JRA but ordering a CBC, ESR, RF, ANA, and synovial fluid analysis are good to get. Treatment includes NSAIDs, MTX, and corticosteroids.
JRA is the most common rheumatologic disorder in kids. What age do you first have to have symptoms by, and how long do they need to last for a diagnosis of JRA? In the sexually active adult, what type of arthritis must always be considered.
The diagnosis specifies onset prior to age 16 and symptom duration 6 weeks or longer. In the sexually active adult, gonococcal arthritis must always be considered. Septic joints should always be tapped.
Three diverse entities fall under the JRA rubric, classified according to symptoms occuring in the first 6 months of illness: systemic, polyarticular and pauciarticular. Define each of them (i.e. how many involved joints, are there systemic symptoms or not).
Systemic disease has systemic symptoms and classically presents with daily high-spiking fevers, a rash and arthralgias that wax and wane with the fever, LAN and HSM.
Polyarticular disease is diagnosed when 5 or more joints are involved and systemic symptoms are mild or absent.
Pauciarticular disease is diagnosed when fewer than five joints are involved and is separated into Early-onset or Late-onset. Early onset occurs mostly in girls with +ANA, and about half of them develop anteriour uveitis. Late-onset occurs mostly in boys older than 8 and may have signs of ankylosing spondylitis.
A 14-year old girl has a 3-day history of enlarged posterior auricular & sub-occipital lymph nodes with a diffuse salmon-colored rash. She reports a sore throat, cough, and low-grade fever for 5 days with tender swelling of multiple large and small joints. Dx?
Rubella. Know that vaccination is given at 1 year and again when the child is entering school. The major reason for vaccine is to prevent congenital rubella; the disease is mild in non-neonates.
A 5-year old girl is referred to a rheumatologist with a 4-week history of mild swelling and decreased range of motion in the left knee and right elbow. She is afebrile and otherwise well. Positive findings on what evaluation will be helpful in diagnosing her? Is it arthrocentesis, CBC, slit-lamp exam of eyes, or bone scan?
Slit-lamp examination of the eyes because this is a probably cause of Early-onset pauciarticular arthritis, which again is common in girls with a +ANA. Fewer than 5 joints are involved and they may have anterior uveitis (i.e. inflammed iris and ciliary body).
An obese 13-year old African-American male complains of right knee pain. He denies any recent trauma, but has a limp favoring his right lower extremity. What should you evaluate for? Order what tests*?
This child probably has Slipped capital femoral epiphysis (SCFE) as he has several risk factors for it: pubertal male, obesity, and African-American. A decrease in range of motion of the hips will be found on PE, and know that hip pain may be referred to the knee. SCFE is the gradual or acute separation of the proximal femoral growth plate with the femur head. X-ray with the child's hips in the frog-leg lateral position are the study of choice for epiphyseal displacement.
Order thyroid, LH and FSH levels -- think of gonadal deficiencies in these patients.
A 5-year old boy has developed a painless limp over the last 3 months, but no history of trauma. Diagnosis? Explain what this disease is. What's the most serious acute complication?
Most likely diagnosis is Legg-Calve-Perthes disease which occurs often in males 4-8 years of age. A painless limp (or mildly painful) develops insidiously is the most common presenting complaint. LCP disease is defined as avascular necrosis of the femoral head with an unknown etiology. The most serious acute complication is subluxation of the femoral head out of the hip socket.
A 2-year old former premie had post-delivery complications of necrotizing enterocolitis, where a small portion of her intestine including her ileocecal valve was removed. Mom said she is growing fine, but notes her daughter's pallor. CBC shows a Hb of 7 and a MCV of 110. What's the mechanism of this child's anemia?
Megaloblastic anemia secondary to Vitamin B12 deficiency. Remember "FeFoCo" for small intestine reabsorption --> Co is cobalamin = B12, thus also ADEK absorbed here. Iron mostly absorbed in the duodenum, and folate in the jejunum.
What kind of deficiency (micro/macro/normo) results if you have low iron? if you have acute blood loss? if you are a newborn being breast-fed by a vegan mom? if you are a newborn being fed pasteurized goat's milk?
Microcytic anemias include IRATS (iron deficiency, anemia of chronic disease, thalassemia, sideroblastic anemia). Normocytic anemia results from many things, 1 being acute blood loss. Macrocytic (megaloblastic) anemia results from Vitamin B12 and folate deficiencies, D.latum infection, breast-feeding from vegan mom, goat's milk, hypothyroidism, and trisomy 21. (Note: B12 def shows neuro signs, folate def does not)
A 3-year old, previously healthy child now living in a home under renovation has developed seizures, abdominal pain + vomiting, "achy bones," and emotional lability. Dx? Best test to diagnose? Tx--and what BLL should it be used at?
Lead poisoning from the lead-based paints in the old home is the cause--sometimes these kids have pica as a symptom. Blood lead level (BLL) should be obtained. Best treatment is to remove child from the source and initiate chelation therapy with Succimer/DMSA at levels above 45ug/dL (do not treat if less than 45).
A 16-year old male who runs cross-country comes to your office saying he has brown urine. Two weeks ago he came to your office and was treated for a pharyngitis. He has periorbital edema, mild hypertension, and hematuria on UA. Dx? Lab studies? Prognosis?
Acute Post-streptococcal glomerulonephritis. The most important labs to get are serum C3 (low 90% of the time) and C4 (usually normal); ASO and Anti-DNase antibodies levels can be checked. APSGN can result from pharyngitis (1-2 weeks after) or from impetigo (3-6 weeks after). Prognosis is excellent as ~98% recover completely. EXTRA: Antibiotic use during the initial GAS pharyngitis reduces rheumatic fever risk but does not prevent APSGN.
This disease is characterized by recurrent painless gross hematuria that is frequently associated with an URTI. When the dark-colored urine is present, there is no dysuria and the pt is otherwise healthy. Diagnosis?
IgA Nephropathy. These patients may develop chronic renal disease over decades. If proteinuria, hypertension, or impaired renal function were present--a biopsy would be necessary.
A 5-year old girl is brought to your clinic because she has developed breast and pubic hair over the past 3 months. Physical exam reveals a girl whose height and weight are >95%, Tanner stage 2, oily skin and facial acne. Dx? Next step?
Central precocious puberty--Obtain more history, FSH & LH serum levels, and bone age radiographs. True (central) precocious puberty is gonadotropin-dependent, meaning the hypothalamic-pituitary-gonadal axis is activated too early. Since she is < 6 year old female, a CNS cause of true precocious puberty must be ruled out--if it was a male, a CNS cause should be ruled out regardless of age because 25-75% of sexual precocity in boys is caused by a structural CNS abnormality (unlike girls where 90% is from idiopathic secretion of hypothalamic GnRH).
What age do you diagnose precocious puberty in girls and boys? Further, what do the bone age radiographs look like in precocious puberty? Treatment and goal of treatment?
What age do you diagnose delayed puberty in girls and boys?
Precocious puberty = secondary sexual characteristics onset before age 8 in girls and 9 in boys; bone age radiographs are advanced beyond chronological age; goal of treatment is to prevent premature closure of the epiphyses, allowing the child to reach full adult growth potential--GnRH agonists are used in Tx because they'll desensitize the gonadotropic releasing cells of the pituitary.
Delayed puberty = no signs of puberty in girls by age 13 or in boys by age 14.
A 7-year old girl undergoes Tanner stage 2 development. The girl complains of sharp pains in her lower "belly." On physical exam suprapubic abdominal mass is felt on examination. Most likely diagnosis?
Precocious pseudopuberty (gonadotropin-independent thus no H-P-G axis activation). With the given history/PE, an estrogen-producing tumor of the ovary or adrenal gland is highly likely--other causes of precocious pseudopuberty includes exogenous sources of estrogen like birth control pills or estrogen creams.
A baby girl came in for her 6-month well check and you notice large coffee-colored macules on the right side of her body. A few days later after receiving a vaccination at her well check, she came in with redness and pain over the injection site and a femur fracture was suspected. At 8 months of age, her mom brought her in right away when she noticed her daughter had vaginal bleeding. On close PE, you notice breast buds as well. Diagnosis?
McCune Albright Syndrome is likely with the given history. MAS is characterized by unilateral cafe-au-lait spots, precocious puberty (i.e. pt's onset of menses), and polyostotic fibrous dysplasia (where your prone for bone fractures).
A full-term newborn is born with ambiguous genitalia. This is a psychosocial emergency and gender assignment should aim to achieve unambiguous and sexually useful genitalia. Most likely diagnosis? Next step in evaluation? What's the most important factor in determining an infant's sex assignment? If the diagnosis is CAH, what's the treatment?
Most likely diagnosis is Congenital Adrenal Hyperplasia (most common = 21-beta-hydroxylase deficiency): CAH decreases cortisol production, increases 17-alpha-hp levels, and causes virilization.
Next step in evaluation includes getting a karyotype and a serum 17-alpha-hydroxyprogesterone level, but phallic size is the most important factor in determining an infant's sex (microphallus is < 2cm stretched)! After assigning gender, intervene with surgical and hormonal treatments ASAP.
If it is CAH, administration of hydrocortisone will inhibit both excess androgen production and further virilization.
You examine a full-term 3780-g newborn in the nursery and notice that he has marked hypotonia, a very small penis, and unilateral cryptorchidism. Most likely diagnosis?
Prader-Willi is most likely as it is characterized by severe hypotonia, FTT and hypogonadism early on. Around age 6, hyperphagia, obesity, and mental retardation manifest. Unilateral cryptorchidism is a distractor in this vignette--it's reasonable to associate it with mixed gonadal dysgenesis.
An adolescent male presents with dysuria and urethral erythema with scant mucoid discharge. No other findings, no increased urinary frequency. Diagnosis? Possible etiologies?
This is a Urethritis caused by a STI. Most common causes are gonorrhea (2-5 days incubation, very purulent) or chlamydia (5-10 days incubation, less pus). Urine PCR testing for GC and chlamydia have great sensitivity and is less invasive than swab cultures--however, if the pt is a victim of abuse, urethral swabs are required. NOTE: Urine leukocyte esterase+ means bacterial infection present when there's pyuria; Urine Nitrite+ means the infxn is caused by an Enterobacter (i.e. E.coli)--for a positive nitrite test >100,000 colonies need to be grown.
When evaluating a patient with possible STI, always ask about dysuria, urinary frequency, presence of discharge, changes in urine appearance, genital lesions, and rashes. If there is a transient pustular rash 4 days after sex and mucoid discharge + dysuria, what's the diagnosis?
In the presence of an STI, a transient pustular rash may be associated with disseminated gonococcal infection. However it is important to know that more than 60% of urethritis patients are asymptomatic, and only 1/3 will have frank dysuria or discharge. Thus, some physicians recommend annual urine screening.
Prior chlamydial infection carries how much an increased risk for ectopic pregnancy in females?
What is the treatment for GC and chlamydia?
2x increased risk.
GC Tx = single IM dose of Rocephin (ceftriaxone)
Chlamydia Tx = 1 dose of Azithromycin, or 1-week course of doxycycline. Realize that patients with GC infection are often treated for possible concomitant chlamydial infection.
A 16-year old sexually active female presents with 1-day history of stabbing left groin pain, and white vaginal discharge and mild dysuria for 1 week. Last menses was 3 weeks ago with no abnormal bleeding. She takes OCPs and her partners irregularly use condoms. She has suprapubic pain on deep palpation and is afebrile. Next step?
Always perform a UA and a urine pregnancy step as the first step in management. This patient probably has a chlamydial infection causing PID, but others in the DDx include ectopic pregnancy, ovarian cyst, or UTI.
A 15-year old girl has only burning on urination and erythema surrounding the vaginal introitus. Her UA was negative for nitrites and leukocyte esterase. Likely diagnosis?
Chemical urethritis as a result of frequent douching, chemical irritants (soaps), fabrics (rayon), or drying agents (powders). Dysuria does not always indicate urethritis or UTI. Irritated UG lesions or chemical urethritis can promote dysuria with scant or no findings on physical or UA.
A 6-year old boy complains of persistent runny nose. HIs family has tried OTC cold remedies but with marginal, temporary success. His complaints including sneezing paroxysms, itchy throat and eye tearing. He has dark circles under his eyes and a crease across the nose bridge. The nasal turbinates are pale blue, boggy and coated with clear drainage. Diagnosis? Next step in management?
Allergic rhinitis occurs in ~1/3 of kids. To reassure allergic rhinitis Dx, eosinophils in a Hansel stain of nasal drainage can help. Allergy testing may be helpful in patients with severe symptoms. Dx is best managed with allergen avoidance. Nasal steroids ar the most effective chronic allergic rhinitis meds; epistaxis and nasal irritation are side effects.
Anti-histamines can control symptoms of sneezing, itching, and nasal drainage. Loratadine is preferred over diphenhydramine because it is non-sedating. Decongestants (pseudoephedrine) are indicated for significant nasal obstruction; side effects include insomnia and agitation.
Realize viral and bacterial URIs usually cause congestion with mucopurulent drainage, versus clear rhinorrhea in allergic rhinitis.
A 16 y.o. male, a resident at a juvenile detention center, was healthy until this morning when he developed a headache, a 105.8 fever, and altered mental status. On exam he has a stiff neck and positive Kernig and Brudzinski signs. He is tachycardic but normotensive. Dx? Confirm diagnosis how? Tx? Acute complications? Most common long term complication?
1) Bacterial meningitis. 2) Lumbar puncture is performed to confirm diagnosis unless pt has a skin infection over the puncture site or has signs of increased ICP. CSF analysis includes Gram stain and culture, WBC/RBC counts, protein and glucose analyses. (Bacterial meningitis has decreased glucose and increased protein.) 3) IV antibiotics. In suspected pneumococcal meningitis (i.e. caused by Strep pneumo), 3rd g ceph + vancomycin is indicated due to resistance patterns. 4) The most common long term sequelae is deafness, but acute meningitis complications include nerve palsies, cerebral infarcts/herniations, subdural effusions, venous sinus thrombosis, seizures (1/3 of pts), and SIADH.
1) Bacterial meningitis in older kids is usually caused by _________ and ___________.
2) Bacterial meningitis in neonates/infants have non-specific symptoms and do not include the typical triad of headache, fever and stiff neck. Instead, infants exhibit thermal instability, poor feeding, seizures, and may have what cranial finding?
1) Streptococcus pneumoniae or Neisseria meningitidis. Pneumococcal meningitis is more common in the winter, and since it is an encapsulated pathogen--children with poorly functioning/absent spleens (like sickle cell kids) are at much higher risk for infection.
2) In addition to the other symptoms listed, infants may have a bulging fontanelle as well in bacterial meningitis.
A 13 y.o. boy has a 1-day history of fever and lethargy and was unable to be awoken this morning. In the ER, his RR is 7, HR 55, BP 60/40, and temperature 106. He has altered mental status and a purpuric rash over his trunk. What's the next step? Diagnosis?
Next step is to utilize the ABCs of airway management and intubate the child to secure his airway. The following step would be to start him on antibiotics (PCN or cephalosporin) because he likely has meningitis/sepsis caused by Neisseria meningitis, as evidenced by his purpura fulminans.
An 8 y.o. girl has had a headache for 2 weeks and intermittent fever up to 101. She has had frequent AOM and sinusitis episodes, but her last episode was 5 weeks ago. She started vomiting non-bloody, non-bilious fluid a few days ago and appears lethargic. She has frontal sinus tenderness and nuchal rigidity. Next step?
CT of the head because this child likely has a intracranial mass, probably an abscess from her recurrent sinusitis infections.
A 2-week old infant has a 102 fever, HR 170 & RR 40. The patient is fussy and the anterior fontanelle is full, but no nuchal rigidity is present. Next step?
Perform an LP, blood/urine/CSF cultures and admit to the hospital. Rule out sepsis work-up is initiated. Realize that nuchal rigidity is not a reliable finding of meningitis until about 12-18 months of age.
A 3-year old is at summer daycare and develops fever, cramping abdominal pain, watery diarrhea which progresses to small bloody stools, and is ill appearing. DDx?
Gastroenteritis caused by probably Shigella or Salmonella. Both are non-lactose fermenting, facultative anaerobe GNRs. Both are common in warmer months but with different routes of transmission. Salmonella outbreaks occur sporadically but can be food-related as exposure to chicken and raw eggs are the most common source of infection. Shigella is very infectious, is usually transmitted person-to-person especially in daycares.
If you are suspecting a shigella or salmonella gastroenteritis and you order a CBC, how can you differentiate the two? How do you treat gastroenteritis?
Salmonella infection usually results in a mild leukocytosis. Shigella will have a normal WBC count but a remarkable left shift, i.e. more bands than PMNs.
Treatment focuses on fluid and electrolyte balance correction. Antibiotics are not necessary for Salmonella as the don't shorten the disease course, and they even increase the risk for HUS. Shigella is also self-limited but Bactrim does shorten the disease course.
Two weeks after a diarrheal illness, a 5 year old develops acute onset of pallor, irritability and absent urine output. Dx? Tx?
This patient most likely has Hemolytic-Uremic Syndrome, the most common cause of acute childhood renal failure. It develops in 5-8% of children with diarrhea caused be EHEC 0157:H7. Treatment is supportive, but some kids may require dialysis. All kids are followed for potential sequelae of HTN and chronic renal failure.
A 2-year old developed emesis and intermittent abdominal pain yesterday. His parents weren't overly concerned because he did okay between pain episodes. Today however he has persistent bilious emesis, several bloody stools, and a vague tubular mass in the RUQ. He is febrile, tachycardic, and lethargic. Next step?
Order a contrast enema. This patient probably has intussusception, evidenced by his colicky abdominal pain, currant jelly stools, and a "sausage-like" mass in the RUQ (near ileocecal junction). They often prefer to have their knees flexed to the chest.
Consider malrotation with volvulus as well. Often these patients are infants who will have abdominal distention and blood per rectum (not passing stool) with bilious vomiting.
A 16-year old girl has periumbilical abdominal pain for 1 day duration and a fever of 101. Because of the pain, she does not want to eat and has vomited once. Her sexual and gyn histories do not suggest that her pain is related to her menses or pregnancy. She has abdominal guarding and positive Psoas and Obturator signs. Most likely dx? Next step?
Appendicitis is likely. For this patient, the initial abdominal pain followed by anorexia and vomiting suggests appendicitis. The pain of appendicitis classically begins periumbilically and then migrates to the RLQ (McBurney's point). A positive Psoas sign is elicited when you get pain on passive hip extension. A positive Obturator sign is elicited when you get pain by passive internal hip rotation.
Definitive treatment is surgical removal of the appendix, thus a surgeon should be consulted once this diagnosis is suspected. Abdominal US has great sensitivity, but many places use abdominal CT. A UA, CBC, and pregnancy test should be obtained.
A female college student has 10 days prodrome of malaise, headache and nausea. She now has fever, a sore throat with white exudate-covered tonsils, posterior cervical LAN, and splenomegaly. She has a WBC count that's lymphocyte-dominant. Dx? Best tool to diagnose? Management? Expected course?
Infectious mononucleosis due to EBV infection. Best tool to quickly confirm diagnosis is a Heterophil antibody assay (Monospot)--this is only reliable in kids older than 5! If the patient is < 5y.o., ordeer specific antibody assays.
Symptomatic care should be given with avoidance of contact sports for a few months because if the spleen ruptures, blood loss can be fatal. The acute illness should be over in 2-4 weeks with gradual recovery. Although patient will deny recent ill contacts, EBV infection has a 30-50 day incubation.
In infectious mononucleosis, how is EBV contracted?
The EBV virus is excreted in saliva; infection results from mucosal contact with an infected individual or from contact with a contaminated fomite. Shedding of EBV in the saliva after an acute infection can continue for more than 6 months, and occurs intermittently thereafter for life. Thus, EBV is ubiquitous in humans.
Note: After an infection occurs, EBV replicates in the oropharyngeal epithelium and later in the B lymphocytes.
EBV was first identified from Burkitt lymphoma tumor cells. However, it is also associated with other malignancies such as what?
Hodgkin disease, nasopharyngeal carcinoma, and lymphoproliferative disorders.
A 14-year old adolescent male with HIV and AIDS presents for a physical before traveling to SE Asia. In counseling him, you mention that he must always wear shoes to prevent against Strongyloides infections--why?
Strongyloides can develop a "hyperinfection" in immunocompromised hosts. Its life cycle does not require a period outside the host and thus can auto-infect the host. This autoinfection can lead to disseminated strongyloidiasis in immunocompromised people.
An unrestrained 2-month old infant is ejected through the windshield in a car crash. He has altered mental status, a bulging fontanelle with his skull sutures separated, bilateral retinal hemorrhages, and experienced a 2-minute seizure. What's the cause of his symptoms? How do you diagnose it?
Subdural hematoma is likely and can be confirmed with a stat CT of the head--blood shows up white in a crescent moon-shape. In a subdural bleed, blood from disrupted bridging veins, which connects cortex to dural sinuses, is found between the dura and the arachnoid space.
What age groups are at risk for subdural hemorrhage? epidural hemorrhage? Compare and contrast subdural and epidural bleeds: bilateral/unilateral? seizures/no seizures? mortality/morbidity? appearance on CT?
Subdural: children younger than 1 year and the elderly. Most subdural bleeds are bilateral occuring in the supratentorial space, have assoc-seizures, and are associated with high morbidity b/c brain parenchyma is affected. Also, 1/3 of all pts have skull fracture. On CT, subdural appears concave like a crescent-moon.
Epidural: older kids and adults. A characteristic lucid interval is experienced before rapid decline. The middle meningial artery is often ruptured in the infratentorial space. Most epidural bleeds are unilateral, do not have seizures, and have high mortality. On CT, the bleed is a biconvex hematoma.
A 16-year old female presents with very heavy menstrual bleeding for the last 6 months. She notes her cycles are regular at 29 days, but her period lasts for 10 days ago and goes thru 10-12 pads per day. She gets dizzy when she stands up and has pallor and pale conjuctivae. A urine pregnancy test is negative and her hemoglobin is 10. Dx? How would you manage this patient?
Dysfunctional uterine bleeding causing anemia and orthostatic hypotension. Place the patient on OCPs for 3-6 months and recheck her hemoglobin in 6 weeks. Realize that menstrual bleeding that leads to anemia and orthostatic hypotension is not typical and warrants further investigation (pregnancy, bleeding disorders, STDs, trauma, malignancy).
What is the term defined as "excessive and/or prolonged uterine bleeding with a regular menstrual cycle"?
What is the term defined as "irregular uterine bleeding between menstrual cycles"?
Menorrhagia; metrorrhagia. Both are terms that fall under dysfunctional uterine bleeding. The typical presentation is that of a teen with regular menstrual cycles that then develops prolonged/heavy bleeding or irregular bleeding.
In DUB (dysfunctional uterine bleeding), after verifying the patient is not pregnant, what is the next important test to get to help guide management?
Hemoglobin, as it helps categorize the severity of bleeding and helps guide future management. A Hb <12 is mild, 9-12 is moderate (Treat with iron and OCP), and < 9 is severe (hospitalize & transfuse with IV estrogen and high dose OCPs until the bleeding stops).
A 16-year old female presents with persistent vaginal bleeding. She has been seen 3 months ago when she had a mild anemia of 13, diagnosed her with DUB and started her on iron. Today she is listless and pale with a Hb of 6 and negative pregnancy test. She is admitted and transfused with PRBCs (packed RBCs). In addition to stabilizing her circulatory system, what else should be done to stabilize her?
Since her Hb is 6 she is classifed as with severe DUB. In addition to the transfusion, administer IV estrogen (Premarin) and high-dose combination OCP to stop the bleeding.
A 19-year old girl has a 101.2 temp, lower abdominal pain, and dyspareunia. She denies n/v/d and has cervical motion tenderness on exam. Urine pregnancy test is negative, as was the US for appendicitis. Appropriate outpatient management includes what?
Since this patient likely has PID (Evidenced by lower abdominal pain, no obvious cause, and cervical motion/adnexal tenderness), she should be treated for both gonorrhea and chlamydia. A single dose of ceftriaxone and doxycycline for 1 week (or z-pak) is appropriate.
An otherwise healthy 2-year old boy with normal development and a family history of seizure in his father (1 episode at age 4), has a brief generalized seizure that lasted 5 minutes. When the ambulance arrived, vitals were HR 108, RR 16, BP 90/60, and temp to 104. Dx? Management? Expected course of this condition?
Simple febrile seizure = a seizure that occurs in the absence of a CNS infection with an elevated temperature in a child between age 6 months to 6 years. Febrile seizures are common, occurring in 2-4% of kids; they seem to have a genetic basis and kids are at increased risk if a first-degree relative has been diagnosed with them.
Best management is parental education, injury prevention during the seizures, and fever control. Expected course includes possibility of more seizures if fever present, but he is likely to "grow out" of the condition by age 6. He is likely to have no long-term sequelae and will have normal development.
A simple febrile seizures lasts for ______ minutes without focal or lateralizing signs. A complex febrile seizure lasts for ______ minutes and may have lateralizing signs. Realize that if a seizure lasts longer than 5 minutes, __________ can be used to interrupt the seizure. If that medication didn't work, you can try ____________.
< 15 minutes, > 15 minutes.
Benzodiazepine, phenytoin.
A 7-month old is brought to the ER by paramedics as she experienced a seizure for 20 minutes. Three days ago her PCP diagnosed her with a URI. Vitals are HR 90, RR 25, temp 100.4. The tympanic membranes are dark and without normal landmarks, and the anterior fontanelle is full. Lungs are CTA bil, abdominal and heart exams are normal. She has a bruise over the occiput and along the spine. What test do you order?
CT of the head due to suspected intracranial hemorrhage from physical trauma.
A 10-month old boy has a 1-day history of fever to 104, irritability, and decreased PO intake. Physical exam is normal, but the child is lethargic. Next step?
Although this child may be diagnosed with febrile seizures, he is lethargic and < 1 year of age so an LP is required to evaluate the child for meningitis.
Parents worry about their 4-year old son's ability to walk. He first walked at 16 months but was clumsy and fell frequently. He remains clumsier than his peers, falls during simple tasks, and has developed a "waddling" gait. Within the last month he has experienced difficulty arising from a sitting position on the floor. Dx? Screening test? Diagnostic test of choice?
Duchenne Muscular dystrophy, an X-linked recessive disorder is likely and is the most common hereditary neuromuscular degenerative disorder (Becker's is similar but less severe). DNA blood analysis is diagnostic in 2/3 of cases. Muscle tissue testing for abnormal dystrophin can be performed when blood samples are not diagnostic. Muscle biopsy will show inflammatory, fat, and connective tissue infiltrates. Other helpful lab findings include an elevated CK as an initial screen.
All DMD patients will have some degree of what heart issue? Patients generally become wheelchair bound by what age? NOTE: Nonprogressive intellectual impairment is common as patients have an average IQ of 80, and brain atrophy can be seen on CT.
Cardiomyopathy. Age 12.
A 10-day old previously healthy infant with a 12 hour history of fever, irritability, and decreased oral intake. Mom did receive prenatal care. The child has multiple 2mm fluid-filled vesicles on the parietal scalp and experienced a 2-minute, right-sided body shaking seizure. Lab results reveals lymphocytic meningitis. Dx? Work-up?
Congenital HSV infection. A young infant with fever and irritability is presumed to have a serious bacterial/viral infection. Despite mom having prenatal care, its possible she never had an outbreak to know that she has herpes.
In addition to CBC, work-up includes HSV cultures (blood, nasopharynx, eyes, urine, rectum, CSF). CSF is tested by PCR for HSV.
Left untreated, the majority of infants with disseminated or CNS infection die. The use of high dose, long duration Acyclovir has reduced mortality and morbidity. HSV encephalitis tends to be global in the neonate, but EEG/MRI in older patients show HSV has tropism for the temporal lobe.
A mother brings her 11-month old daughter into the clinic for a persistent facial rash. She is otherwise healthy. PE reveals dry, red, scaly areas on the cheeks/chin/peri-oral areas. The diaper area is spared. Dx? Next step?
Atopic dermatitis (Eczema). Next step is to obtain further history of rash duration and exacerbating factors, and family history for eczema/allergies/asthma. Atopic dermatitis is pruritic, recurrent, and flexural in older kids and symmetrical in adults. 65% of pts develops symptoms in the first year of life, while 90% will be diagnosed by age 5.
How do you treat eczema?
Treatment involves avoiding aggravating factors and drying soaps, and ensuring intensive skin hydration with emollients. An emollient is a cream or lotion that restores water and lipids to the epidermis. Creams are better than lotions because creams contain urea or lactic acid which make for a more effective lubrication.
Lower-potency steroids such as Fluticasone can be added to moisturizers to cover large areas of affected skin. Fluorinated corticosteroids are avoided on the face, genitalia, and the intertriginous area because they may depigment and thin the skin.
A newborn has greasy/waxy, yellow-brown scales on his ears, nose, and eyebrows that appeared in the first few months of life. Dx? Tx?
Cradle cap (seborrheic dermatitis). The chronic, symmetrical eruption is characterized by overproduction of sebum. Treatment includes softening the scales with mineral oil, avoiding scrubbing, and daily shampooing with a mild shampoo. Lower potency steroids or ketoconazole shampoo may be helpful.
An 8-year old girl presents with a minimally itchy rash on her chest, abdomen, and arms. It started with one small, scaly red area on her chest and then spread. PE reveals salmon-colored, flat, finely scaly, oval eruptions on the aforementioned areas. Diagnosis? Tx?
Pityriasis rosea is preceded by a "herald patch," an annular scaly, red lesion. The lesions are salmon-colored and in a Christmas-tree formation following the lines of the skin. The cause is unknown. The rash usually lasts 6 weeks and then resolves.
An 8-month old has refractory eczema and multiple episodes of AOM and PNA. He has now developed nosebleeds. His CBC reveals 15,000 platelets (thrombocytopenia). Diagnosis?
Wiskott-Aldrich syndrome is an X-linked condition with recurrent infections, thrombocytopenia, and eczema. Infections and bleeding usually are noted in the first 6 months of life. Since there is T-cell dysfunction, pts will have poor antibody responses to capsular polysaccharides, fungal and viral septicemias. In addition to eczema, these kids have autoimmune disorders and a high incidence of malignancy.
A father reports his 3-year old daughter has decreased energy, loss of appetite, and an enlarging abdomen over the past few weeks. PE reveals discoloration underneath the eyes, proptosis, and a large, irregular abdominal mass along her left flank that crosses the midline. Dx? Next step? Tx?
Neuroblastoma = a tumor of primitive neuroendocrine tissue (PNET tumor) usually from the adrenal gland. This child has classic ecchymycosis (raccoon eyes), proptosis (sluggish sympathetics), and a non-tender abdominal mass that crosses the midline. Also prevalent in neuroblastoma is opsoclonus-myoclonus syndrome, characterized by chaotic eye movements and myoclonic jerks (dancing eyes, dancing feet).
Next step is to get CT or MRI to assess the extent of the tumor. Lab markers include elevated urinary vanillylmandelic acid and homovanillic acid levels (NE and dopamine metabolites respectively).
Tx = surgical tumor excision + chemo/radiation
A mom feels a mass in the belly of her 4-year old son during a bath. He has no significant history. His BP is 130/88, HR 82, and has both pallor and a firm left-sided abdominal mass that does not cross the midline. Dx? next step?
Wilms tumor. Next step: obtain abdominal imaging, check UA for hematuria, BMP for renal/hepatic dysfunction, and CBC for anemia.
Note that patients with Wilms tumor are slightly older and appear less sick than neuroblastoma patients.
A 1-week old infant presents with right midquadrant abdominal mass and decreased urinary output. There has been no temperature lability, irritability, or abnormal stooling or urine appearance. Dx?
This is likely a Hydronephrosis as urinary tract obstruction is often silent. In the newborn, a palpable abdominal mass commonly is hydronephrotic or multicystic kidney disease.
A 3-year old girl complains of sore throat and difficulty swallowing for 3 days. She has been irritable and does not want to move her neck. Her appetite and intake has decreased and vomited twice overnight. She exhibits no signs of a URI, but her physical exam reveals bilateral tonsillar exudates and an erythematous posterior oropharynx with right posterior pharyngeal wall swelling. Dx? Next step?
Retropharyngeal abscess. Lab test may include rapid strep test. Imaging may include lateral cervical x-ray and CT to elucidate location and extent of infection. The retropharyngeal space is behind the esophagus and contains lymphatics that drain the middle ears, sinuses, and nasopharynx. Because it's a space contiguous with the posterior mediastinum, there's a potential for the infection to spread.
A patient who passively refuses to move the neck secondary to pain is likely to have a retropharyngeal abscess. A typical pt with retropharyngeal abscess is a toddler younger than 4.
Drooling is a sign of infections of the retropharygneal, parapharygneal, and peritonsillar spaces and what other classic infection? Of the aforementioned abscesses, which one is most common?
Epiglottitis usually by H.influenza (classic thumb sign on lateral x-ray).
Peritonsillar abscess is seen in any age but prevalent in adolescents/young adults. Peritonsillar abscesses are the most common abscesses seen in pediatrics. Sometimes peritonsillar (and parapharyngeal) abscesses are so bad that patients don't want to even open their mouths (= trismus). Parapharyngeal infection can impact neurovascular elements in the lateral space. And remember infection in any one compartment can spread to other compartments.
A patient has exudative pharyngitis with neck LAN, rhinorrhea, and cough. Is it more likely to be viral or bacterial?
Symptoms are more consistent with viral etiology.
A previously healthy 5 year old has had a 102.8 fever for 1 day. He does not want to drink and vomited this morning. He has no URI symptoms, nor diarrhea. His posterior oropharynx is markedly red with enlarged, symmetrical tonsils that are laden with exudate. Shoddy cervical LAN is noted. Dx?
Most likely a strep tonsillitis. Coxsackie tonsillitis is possible, however it usually has ulcerative pharyngitis rather than exudative. Since the pharynx is symmetrical, retropharyngeal/peritonsillar abscesses are unlikely.
A rapid strep test and a swab for culture would be good tests to do. Oral PCN can be used for Tx.
A term infant is born vaginally following an uncomplicated pregnancy. Shortly after birth, he begins to cough, followed by a choking episode, difficulty handling secretions, and cyanosis. During the resuscitation, placement of an OG tube met resistance at 15cm. He is transferred to the NICU for management. Dx? Best test for evaluation? What pregnancy complication is often seen with this condition?
Esophageal atresia, most likely a tracheoesophageal fistula. Infants with 'esophageal atresia' cannot handle oral secretions and require constant esophageal pouch drainage to prevent aspiration.
A chest and abdomen x-ray with the OG tube in place will demonstrate a coiled tube in the esophageal blind pouch.
Polyhydramnios, because the fetus cannot swallow the amniotic fluid.
In 30-50% of TEF (tracheoesophageal fistula) patients, other congenital anomalies occur--the most common association being the VATER association. VATER stands for what?
Vertebral abnormality, Anal imperforation, Tracheo-Esophageal fistula, and Radial & Renal anomaly.

Be on the lookout if they give you a simple case of TEF, they may ask you what other anomaly might you see (answer will be VATER).
An infant with a history of recurrent pneumonia is diagnosed with TEF at 8 months of age. The infant most likely has what type of TEF?
H-type. H-type TEF infants are found later in infancy with recurrent PNAs and/or difficulty feeding. Contrastingly, patients with esophageal atresia and a distal fistula will present in the first hours of life. Nonetheless, all patients with TEF are at high risk for GERD.
A 2-year old girl with a history of esophageal atresia and a VSD is hospitalized with Pneumocystis carinii pneumonia. This patient also had a history of hypocalcemia-induced seizure at age 18 months. Diagnosis?
DiGeorge Syndrome--thymic hypoplasia results from abdnormal 3rd and 4th pharyngeal pouch formation during fetal development. Neighboring structures formed during the same fetal growth period are often affected, thus some conditions include anomalies of the great vessels, esophageal atresia, bifid uvula, mandibular hypoplasia, and low-set notched ears.
A term male is born at 38 weeks via a scheduled repeat C-section prior to onset of labor. Mom received good prenatal care and was GBS negative. At delivery, amniotic fluid was clear and APGAR scores are 8 and 8 and 1 and 5 minutes, respectively. Within the first hour of birth, he has tachypnea, nasal flaring and mild contractions. Chest auscultation reveals good aeration bilaterally. Diagnosis? Best management for this condition?
Transient tachypnea of the newborn. Supportive care including supplemental oxygen if needed. The first thing to do with this kid is to listen to his heart and lungs! CXR may show perihilar streaking and fluid in the fissures with well aerated lungs.
TTN is a self-limited condition (resolves in 1-2 days) caused by slow absorption of fetal lung fluid with resultant tachypnea. The condition more commonly is associated with C-section, term infants.
A 33-week old premie begins have respiratory problems soon after birth. He has poor oxygenation, grunting, and retracting. CXR reveals a reticulonodular "ground glass" pattern and decreased lung aeration. Dx? Tx?
Respiratory distress syndrome is likely in a premature infant that has probable surfactant deficiency.
Supportive care includes supplemental oxygen as needed and IV fluids/NG feeding to maintain hydration. Exogenous surfactant should also be administered.
At delivery, thick meconium is found and fetal bradycardia noted. The baby was tubed and provided direct suctioning. He was stabilized in the NICU but abruptly required increased oxygen. Physical reveals decreased right-sided breath sounds. What's going on with this child?
This infant likely has a right-sided pneumothorax because infants with meconium aspiration and respiratory distress are at higher risk for pneumothorax, especially if high PEEP is used for oxygenation. A chest tube should be put to relieve the child's distress.
A full-term 1-week old boy presents with bilious vomiting and lethargy. His mother notes a normal prenatal course and uncomplicated delivery. On physical, he is noted to have significant abdominal distention and blood in his diaper. Dx? Best way to manage?
Malrotation with volvulus. Malrotation occurs when intestinal rotation is incomplete during fetal development; volvulus describes twisting of the mesentery of the small intestine leading to decreased vascular perforation which results in ischemia and ultimately bowel necrosis. Volvulus has a 5-10% mortality rate.
This is a classic presentation for malrotation, an infant with bilious vomiting due to intestinal obstruction. NOTE: Malrotation there is no colicky pain and the blood is seen per rectum, not in bloody stools.
Best way to manage is emergency surgery to remove any necrotic bowel and to ensure adequate blood supply to surviving intestine--if surgery is not performed, loss of intestine or even death can result. Initially, order an upper GI contrast series and check fluid/electrolyte status. The upper GI barium will show a "curly Q" pattern.
A 9-year old boy has 24 hours of persistent abdominal pain and vomiting. His physical reveals abdominal guarding and RLQ rebound tenderness. Diagnosis?
A previously healthy 18-month old child has vomiting and severe, colicky abdominal pain. On exam, you find a sausage-like mass. He has not stooled, but you find blood upon digital rectal examination. Dx? Next step?
Intussusception is likely. This vignette is says there's blood on rectal exam; classically, the patient will have currant jelly stools later in the disease course.
Order an air contrast enema as it is diagnostic and may be therapeutic as well. Whenever you suspect intussusception, consult a surgeon.
A 6-week old infant has projectile emesis after feeding. The vomit is non-bilious. He has an olive-shaped abdominal mass on abdominal exam. Diagnosis? What type of metabolic disorder will result? What procedure will confirm diagnosis?
Pyloric stenosis inducing a hypochloremic, hypokalemic metabolic alkalosis. The patient will be vomiting gastric contents which are high in HCl, thus you're losing chloride (hypochloremia) and losing H+ (metabolic alkalosis).
Ultrasound is useful in confirming diagnosis.

Pyloric stenosis usually affects male, first-born infants in the 3-8th weeks of life.
A 3700-g male infant is born full term after an uncomplicated pregnancy. the infant is noted after birth to have a dribbling urinary stream and a lower abdominal mass. Postnatal ultrasound reveals bilateral hydronephrosis with bladder distention. Dx? Most appropriate next test? How do you treat?
A term newborn male with urinary obstruction most likely has Posterior Urethral Valves, and the next most appropriate tests are renal ultrasound and voiding cystourethrogram (VCUG) to confirm diagnosis. Realize PUVs are the most common cause of severe urinary tract obstruction in boys--30% will have renal disease or renal insufficiency even with Tx!
Boys who present with UTI are always evaluated for PUV because there's a high association rate (again, obtain renal USG or VCUG).
Tx: If it's just PUV with no UTI, relieve the bladder with catheterization and perform endoscopic transurethral valve ablation or vesicotomy.
A male neonate has known PUV and was sent for emergent vesicotomy because his urethral lumen was too narrow for a transurethral valve ablation. Following ablation and treatment, these patients still commonly have VUR, persistent hydronephrosis, and renal insufficiency. Because of these complications, what kind of things might you see in this kid?
VUR (vesicourethral reflux) is a common cause of UTI. Many patients will have polyuria because of diminished ability to concentrate urine (renal insufficiency) and are therefore at greater risk for dehydration.
A 2-month old girl presents with fever and vomiting. UA comes back for positive nitrates and leukocyte esterase. Urine culture confirms UTi; renal USG and VCUG show mild hydronephrosis and grade II VUR on the right. Next best step?
UTI will be treated with antibiotics. Thereafter, infants and children with VUR will receive prophylactic antimicrobial therapy (sulf-trimeth, trimeth alone, or nitrofurantoin) and close monitoring for infection with UA and urine culture ever 3-months.
A 6-month old infant male presents with an abdominal mass discovered by his mom during a bath. On physical, you also notice macroglossia and right-sided hemihypertrophy. Dx?
Beckwith-Wiedemann syndrome with Wilms tumor. This patient is at high risk for developing hepatoblastoma and gonadoblastoma as well!
An 8-year old boy presents with bedwetting 3-4x/week for as long as he can remember. He has a strong urinary stream, day time continence, and no UTIs. Mom says he can sleep thru anything. Physical exam is normal. Next step in treatment?
Use an enuresis alarm for primary nocturnal enuresis, which is successful almost 90% of the time.
Medications that can be used include night-time doses of imipramine or oral DDAVP (an ADH analog).
An 8-year old easily distractible and constantly fidgets. He is a hyperactive boy who cannot complete schoolwork or chores at home. Although the child is very talkative, he does not answer questions clearly. Dx? Next step?
ADHD is suspected--he has inattentiveness, hyperactivity, and impulsivity. Get information regarding his behavior from both the caregiver and from the classroom teacher. He should also undergo developmental and psych evaluations because coexisting psychiatric conditions or learning disability are common--i.e. oppositional-defiant disorder (35%), conduct disorder (25%), anxiety (25%), and depression (20%). Behavioral therapy, classroom modification, and possibly medication can be initiated to treat the child.
For an ADHD diagnosis to be made, symptoms must be present for at least __ months in two or more settings, with symptoms beginning before age ___.

How do you treat ADHD patients?
Behavorial modification can be used alone or in conjunction with medications. First-line pharm therapy includes stimulants like methylphenidate and dextroamphetamine. Atomoxetine (Strattera) is a non-stimulant, SNRI that works as well.
About 50% of children will function well in adulthood, while the others demonstrate continued inattention and impulsivity symptoms.
A 7-year old boy appears distracted. His mom notes that he daydreams "all of the time" and when he is daydreaming, he does not respond to her. She describes the episodes as lasting several seconds and occurs many times per day. When he is not daydreaming, he is attentive and completes tasks. Next step?
Send the child for an EEG as he probably has absence or petit mal seizures.
A previously healthy 12-year old boy has had right knee pain for 3 weeks. He is athletic, playing basketball and track, but he denies any recent trauma. He describes increased pain when he runs or jumps. Physical exam notes mild edema and tenderness over his right tibial tuberosity. Dx? Next step?
Osgood-Schlatter Disease is a clinical diagnosis. Next step for most patients is rest and ice after activity + NSAIDs prn. His lack of constitutional symptoms (fever, joint erythema, weight loss etc) are clues that this a relatively benign condition.
The knee pain of OSD is caused by inflammation of the tibial tubercle, an extension of the tibial epiphysis (aka growth plate). Ossification centers begin to form between ages of 9 and 13 and are completed at the completion of puberty. Repetitive running/jumping cause traction and microfractures to the developing area resulting in inflammation, edema and tenderness.
An adolescent presents open comedones (blackheads) and closed comedones (whiteheads with purulent debris) on her face and shoulders. She is diagnosed with non-inflammatory acne. First line management includes what?
Topical benzyol peroxide or a comedolytic agent such as topical tretinoin. Benzoyl peroxide is bactericidal and keratolytic, causing follicular desquamation (Rx > OTC in efficacy). Tretinoin is a vitamin A derivative that inhibits comedone formation and increases cell turnover.
Topical, rather than systemic, antibiotics are preferred because of their fewer side effects.
Extra: Oral contraceptives are approved for treatment of acne in females. Diet has not been found to have an effect on acne (chocolates, greasy foods are a myth).
An adolescent male has severe, resistant nodulocystic acne. Treatment? Are there any special considerations for females?
Accutane (isotretinoin) is the treatment of choice. A 4-month course often clears a severe case of acne. It is highly teratogenic and has many side effects including cheilitis (lip inflammation), conjuctivitis, photosensitivity, hyperlipidemia, blood dyscrasias, and elevated liver enzymes. Rare side effects include depressions, suicide, myalgia, and arthralgia.
Females are required to have a negative pregnancy test before beginning therapy.
Intralesional steroid therapy is sometimes used in unresponsive cases.
A 2-week old male newborn presents with a "twisted neck." He was born via a difficult vaginal delivery because of his large size (4550 g). On exam, is head is tilted toward the right and his chin rotated toward the left. He has a palpable, firm mass in a contracted right SCM. Diagnosis? Should any imaging be performed?
DX: Torticollis, identified in a patient with an obviously twisted neck with the head and chin point to opposite sides, is commonly due to injury/ contracture of the sternocleidomastoid muscle (SCM) from birth trauma.
Torticollis presents soon or after birth; infants may have experienced birth trauma and usually have a palpable, firm mass within the affected muscle.
IMAGING: Congenital cervical vertebral malformations can cause torticollis, therefore a cervical spine x-ray should be done.
TX: Initially the best treatment is gentle stretching of the SCM if it's a muscular torticollis (as in this case), but if a vertebral anomaly is causing the torticollis stretching the SCM will not help and actually might hurt the patient.
If a patient has persistent torticollis, what facial abnormality can result?
Facial asymmetry can result if the condition persists beyond the first months of life; an ortho consult is indicated.
Realize torticollis can result from birth trauma or vertebral malformation, or later in life from trauma, inflammation, neurologic conditions, or medications. Therefore torticollis presenting beyond infancy requires cautious evaluation.
A 3-month old male infant has intermittent neck contortions and arching. He was term at birth with an uneventful prenatal course and delivery. He frequently spits up after feeding, and has had one episode of pneumonia. Diagnosis?
GERD + intermittent torticollis = Sandifer syndrome.
He has a history of frequently spitting up and has had pneumonia, probably from aspiration. Sandifer syndrome patients have abnormal head posturing associated with reflux, probably to protect the airway.
A healthy 2-week old girl has yellow discharge from her left eye. Her mom had early prenatal care and the baby was delivered vaginally. Within the first few days of life, mom noted that the baby had increased tear production in her left eye, which now has yellow discharge. She has red reflexes bilaterally and her pupils are equal and reactive to light (PERRLA). Diagnosis? Next step?
Dacryostenosis (blocked or narrowed tear duct) is considered when infants have unilateral/bilateral increased tearing. It is caused by failure of canalization of the nasolacrimal duct. In almost all cases, dacryostenosis resolves on its own by age 1.
Initial treatment involves nasolacrimal massage 3x/day and warm water cleansing. Topical antibiotics are added for purulent discharge. However, note that if the tear duct becomes infected--IV antibiotics is needed (not topical).
If the condition persists beyond 1 year, refer to have it canalized surgically.
An 8-hour old newborn presents with bilateral conjuctivitis following routine newborn care in the nursery. Next step in the management?
Send the eye discharge for culture and start antibiotics based on culture results. Conjuctivitis in the first few hours of life is most likely caused by chemical irritation.
A 4-month old infant has excessive right-sided tearing. His mom says he gets irritable in bright light and calms down in a dark room. On exam, his right eye is larger than the left. What do you do?
Refer to a pediatric ophthalmologist. A history of 1) excessive tearing, 2) photophobia, and 3) corneal enlargement all suggest congenital glaucoma.

Extra: Congenital rubella has a few eye complications including glaucoma, cataracts, and retinopathy.
Hearing loss caused by cochlea damage due to infections, noise, ototoxic agents, or genetic defects is classified as what time of hearing loss?
What's the most common autosomal dominant syndromes associated with this condition?
What's the most common infectious cause of this condition?
Sensorineural Hearing Loss. It can be congenital or acquired, with about half of cases resulting from genetic factors.
The most common AD syndromes associated with SNHL include Waardenburg syndrome types 1 and 2, and brachio-oto-renal syndrome. Waardenburg patients have a white forelock, heterochromic irises, and deafness. BOR syndrome has branchial fistulas, pre-auricular pits, hearing loss, and renal impairment.
Prenatal CMV infection is the most common infectious cause of SNHL; it can cause hearing loss in late infancy/early childhood. However, other TORCHES infections can cause SNHL too.
Note: ototoxic drugs include cisplatin, loop diuretics, and aminoglycosides.
Describe the expected language development of a normal 12, 18, 24, and 36-month old child (how many words, do they use sentences).
12 months: 2-3 meaningful words + mama and dada.
18 months: A 10-word vocabulary but no combination of words.
24 months: A 50-word vocabulary and 2-word combinations to make a meaningful sentence.
36 months: 250 words producing at least 3-word sentences and use pronouns.
A previously health 3-year old boy presents with sudden onset of rash. His mother said he was playing outside when she noticed small red spots and a large purple area on his skin. He has no fever, n/v/d, and isn't taking any medications. Three weeks ago he had a viral illness but that resolved. He has neither LAN or HSM. His CBC shows whites at 8500, Hb at 14, and platelets at 20,000. Peripheral blood smear was obtained and is normal. Dx? Next step? Most serious complication?
ITP (Idiopathic Thrombocytopenic Purpura) is suspected when a healthy appearing child develops thrombocytopenia and petechia/purpura. ITP is a condition of increased platelet destruction by circulating antiplatelet antibodies, most frequently antiglycoprotein 2b/3a.
Acute ITP is the most common cause of thrombocytopenia in a well child usually aged 2 to 5 years. Young kids usually present with acute onset of petechiae and purpura, and a history of a viral illness a few weeks prior. Within one month of presentation, more than half of all untreated kids have complete resolution. Tx remains controversial.
Most serious ITP complication is intracranial hemorrhage, occurring in < 1% of patients. From 10-20% of ITP patients have chronic ITP (aka, lasting >6 months) and are usually older females.
A 7-year old boy has a rash on his lower extremities and pain in his right knee. He has a low-grade fever and abdominal pain. He is non-toxic appearing but has palpable purpura on his legs and buttocks. His right knee is edematous but can bear weight. Blood studies are normal. Dx? Next step?
Henoch-Schlonlein Purpura = a small vessel vasculitis in young children, which classic palpable purpura on the lower extremities and buttocks, abdominal pain, arthralgia, and IgA nephropathy. Know that intussusception is a sequelae to HSP.
Next step is to obtain a UA to see the extent of renal involvement. Further, abdominal pain requires careful evaluation.
A 3-year old boy has pallor, lethargy, and decreased urine output. He was well until a week ago, when he had fever and bloody diarrhea that's now resolved. On exam, he is lethargic, has HSM and scattered petechiae. UA reveals hematuria and proteinuria. Dx? What will peripheral blood smear show?
Hemolytic-Uremic Syndrome, characterized by a bout of bloody diarrhea that is followed by a hemolytic anemia, thrombocytopenia, and nephropathy. It is clssically caused by E.coli 0157:H7 > shigella and salmonella.
Peripheral blood smear will reveal helmet cells and burr cells.
A 2-year old boy presents with inability to walk for 2 days after falling from the bed onto a carpeted floor. He lives with his mom, 15-month old sister, and 3-month old brother. On PE, the child is apprehensive and has pain on right thigh palpation. X-ray shows a femur fracture. Dx? Next step?
Child abuse. The only trauma history for this child is a fall from a bed onto a carpeted floor; it is unlikely that a significant fall would cause a femur fracture. If a child's development is inconsistent with the injury history, child abuse is suspected.
What is the common form of child maltreatment that consists of failure to provide adequate nutrition, shelter, supervision, or medical care?
Neglect. Healthcare providers legally are required to report suspected abuse to CPS (Child Protective Services) or law enforcement, as abuse encompasses physical, emotional, sexual abuse and neglect.
A 4-month old girl is fussy, appears to have pain on palpation of the right leg and has blue sclerae. Xrays reveal a right femur fracture. Her mom deny any severe trauma but reports that she had multiple fractures as a child. Dx? Family history will also include what other signs?
Osteogenesis Imperfecta is likely, an autosomal dominant disorder. Features include long bone fractures, deafness, short stature and blue sclerae. Specifically, this patient and her family probably have OI type 1 (mild). OI type 2 is lethal in utero, OI type 3 is most severe, and type 4 is moderately severe.
A 7-month old boy has respiratory difficulty and is brought to the ER at 3am. His mom says he first developed a cough 2 days ago, and the cough has become "barky." On exam he has a low-grade fever, tachypnea, and tachycardia. A moderately inflamed pharynx and inspiratory stridor are noted on PE. Next step?
This child likely has croup (croup is worse at nighttime and especially on the 2nd night). Administer aerosolized racemic epinephrine and corticosteroids immediately to reduce laryngeal edema. Cool mist is often used in an attempt to relieve laryngeal spasm.
A 14-month old girl has a 6-hour history of fever to 102.6 and an increasingly ill appearnce. She is anxious and doesn't want to leave her mom's arms, but only gives a faint cry when approached. Her RR is 70 and her neck is hyperextended. An area of slobber is noted on mom's blouse. Next step?
This baby girl sounds like she has epiglottitis, a medical emergency, as evidenced by the hyperextended neck, faint cry, and drooling.
The next step is to arrange for immediate transfer to the operating room to secure the airway via tracheal intubation or tracheostomy.
A 3-year old asian male comes in with 5-days of high fever refractory to tylenol. He has hand and feet edema, a bright right oropharynx, bilateral conjuctivitis, unilateral adenopathy, and what other sign? What sign will he develop in a few days? What sign will he develop in 10 days? What is he at risk for in adulthood? Dx? Tx?
Fine truncal rash; hand and feet desquamation after the edema; thrombocytosis; coronary artery disease.
This patient has classic Kawasaki's disease, most prevalent in males younger than age 5. It is a generalized vasculitic disease of unknown etiology but is thought to be infectious.
Treatment includes pediatric cardiology consult, early anti-inflammatory therapy with IVIG and high-dose aspirin. In a few weeks, the aspirin dose is changed from an anti-inflammatory dosage to an anti-thrombotic dose and continued for about 2 months when the ESR normalizes. Echo is usually obtained for baseline cardiac function.
Even with treatment, approximately 5% of children develop coronary artery dilation, and 1% develop giant aneurysms. Steroids are contra-indicated in treatment.
A male 17-year old male presents with pain and localized swelling over the distal femur causing him to walk with a limp. He plays no sports and has had no recent trauma and the joint is spared. He has no systemic symptoms, other than hemoptysis for 2 days--the reason he is coming in today. You send him for a bone x-ray, with reveals a tumor with "periosteal inflammation" described as a radial sunburst appearance. A CXR was done and a tumor is located in his left lower lobe. Dx? Tx?
Even though rare, osteosarcomas are the most common primary malignancy of bone in children and adolescents. Osteosarcoma is a malignant tumor of bone-producing mesenchyme stem cells, is mainly seen in adolescence with a M:F ratio of 2:1, and has a peak incidence during maximum growth periods. At diagnosis, 20% will have metastases (mostly lung)--but the majority do not and won't have any systemic symptoms. Bilateral Rb is a risk factor.
Distal femur + proximal tibia account for the majority of cases (i.e. long bones are affected most).
With treatment (amputation or limb-sparing surgery + chemo), at least 2/3 of pts with non-metastatic osteosarcomas will survive, up to 50% of those with lung metastases may be cured.
A 13-year old pubertal adolescent presents with pain in his right thigh. He said he had pain deep in the middle of this thigh a few weeks ago, but now the pain it is right above the knee. Pain and localized swelling are noted on physical exam. He has been fatigued lately and lost 10 lbs in 2 months. He has a fever today so his mom brought him in. Dx? X-ray reveals what?
This is most likely Ewing Sarcoma (t11;22), an undifferentiated bone sarcoma that arises primarily in adolescents that is 1.5x more common in males. In Ewing sarcoma, pain and localized swelling at the site of the primary tumor are the most common complaints. In the long bones, the pain usually begins midshaft, rather than at the ends as in osteosarcoma. Systemic manifestations are more common in children with metastases and include fever, weight loss, and fatigue.
X-ray characteristically shows a lytic bone lesion with calcified periosteal elevation (onion skin) and a soft tissue mass. Bone marrow biopsy confirms diagnosis. Tx includes chemo with surgery or radiation; chemo is critical because it reduces tumor size/growth and treats microscopic metastases which are almost always present.
An absent red reflex in an infant is a red flag for what cancer?
Retinoblastoma. the presence of leukocoria (absence of a red reflex, aka a "white" reflex) is a finding often seen with Rb and requires ophthalmogic referral for further work-up. It is Rb until proven otherwise.
Realize though that cataracts (opacities of the lens) is the most common cause of leukocoria. Cataracts are often genetically determined, but may result from metabolic diseases or intrauterine infections (thus, congenital cataracts). If the cataracts are not surgically removed within 2 months, amblyopia (= reduced sight in the eye) results.
A 19-year old female presents with cervical adenopathy. On PE it is painless, rubber-like, and about 2cm large. On further examine, you notice she also has mediastinal lymphadenopathy. She tells you she wakes up in night sweats once every couple weeks but attributed it to the warm temperature of her dorm room.
The doctor is worried about what right now? What imaging/lab tests should he do?
This is a classic presentation for Hodgkin's Lymphoma, where the most common presentation is painless, rubbery cervical adenopathy in 80% of pts while 70% also have mediastinal lymphadenopathy. Lymph nodes that are >1cm and are nontender are of great concern. Also, drenching night sweats and unintentional weight loss are systemic clues to malignancy as well.
The cause of HD is unknown, but seems to be multifactorial. HD has an association with EBV as well. The first thing to do is get a chest radiograph. Then, node biopsy is required to make the diagnosis; classically, Reed-Sternberg cells will be seen.
CNS tumors are the most common solid tumors in pediatrics, and are second only to leukemia in overall incidence of malignancies. In contrast to adults, where 70% of tumors are supratentorial, 70% of child CNS tumors are _______________. The most common presenting symptom in kids with infratentorial tumors is _____________. The best imaging to screen is ________ and the gold standard for localizing brain tumors is __________.
Infratentorial (involving the cerebellum and brainstem). Childhood brain cancers are usually well-differentiated and are astrocytomas or medulloblastomas.
Problems with balance or brainstem function (truncal ataxia, loss of coordination, wobbly gait, CN dysfx). It usually is the supratentorial tumors that cause signs of ICP and personality changes.
CT of the head is used as an initial screen and reveals if there is hydrocephalus or hemorrhage.
MRI is the gold standard for localizing brain tumors.
A 7-month old presents with misalignment of the eyes, as her left eye deviates inward. Dx? How do you make the diagnosis?
Strabismus = misalignment of the eyes. Specifically, this is an esotropia because the eye deviates inward.
Diagnosis is made using the corneal light reflex or cover test. The cover test is as follows: the patient covers 1 eye and fixes on an object, the pt removes the cover and a positive test will show eye drift. Screening for stabismus by means of cover testing should be included in every pediatric check-up.
Early medical and surgical intervention results in an improved chance for normal alignment and acuity. If strabismus is not picked up, amblyopia can result.
A 5 year old girl was playing with her twin brother when he accidentally poked her in the eye with a toy. She has been fussing lately saying her eye hurts now so mom brought her in. You notice over her iris, a white line. You suspect that she has a ________________ and can be diagnosed officially by examining the surface of the eye with what?
Corneal abrasion; It can be diagnosed officially by examining the surface of an eye by putting in fluoroscein drops and viewing under a blue-filter light. If a corneal abrasion is present, the abrasion will fluoresce.
New parents bring in their daughter in for her 2-week well-child check. Upon asking about pregnancy/delivery history, mom says that it was a C-section because the child was in a breech position. It was mom's first C-section as it was her first child. The baby is otherwise healthy and parents have no immediate concerns. On physical exam, the baby girl has a positive Barlow and Ortolani provocative tests. Dx? What are these tests? and what do they test for? How do you manage this patient?
Developmental Dysplasia of the Hip (DDH)= abnormal relationship between the hip ball & socket joint and femur head. DDH usually results from delivery, but can develop during childhood. If the dislocation persists, the acetabulum will not develop into a cup-like shape and the femur head is forced further out of the socket.
Risk factors for DDH: newborn in breech position, positive family history of DDH, females, first-born children.
Barlow Test = infant's hips and knees are flexed at 90deg, gentle pressure applied posteriorly; a positive test results when you hear/feel a clunk as the hip disolcates. Ortolani Test = done right after Barlow test, abduct the hip to relocate it into the socket.
Ultrasound is most accurate to detect DDH at 6 weeks of age (not useful after 4 months). If a clunk is heard on exam, refer to orthopedics. Most dislocatable hips stabilize w/o intervention within the first 2 weeks of life. If the child is older than 6 months, a Pavlik harness is the best treatment.
A mom and her son were going for a walk in the park. They parked the car and were about to cross the street when a car flew by. The mom gave a sudden, strong jerk of the child's hand to stop him from crossing the street. The child now dangles his affected arm close to his body, with the elbow slightly flexed and the forearm pronated. Dx? Treatment?
Subluxation of the radial head (Nursemaid's elbow).
Treatment consists of reducing the dislocation by extending the elbow and pronating the hand. A successful reduction is accompanied by a click as the entrapped annular ligament pops into place. Usually the child begins to move the arm within minutes.
A patient is suspected to have osteomyelitis. Since only half of these patients have positive blood cultures, what procedure should be done prior to antibiotic administration?
Aspiration of the bone. Staph aureus is the most common pathogen in all age groups!
Patients with sickle cell disease are particularly susceptible to Salmonella osteomyelitis.
What's the most common cause of septic arthritis? What should be considered in sexually active adolescents with septic arthritis? Sexually active adolescents should be tested for what? All sexually active women should get what at annual check-ups? What's the leading cause of death in adolescents?
Staph aureus; Neisseria gonorrhea; STDs (gonorrhea and chlamydia); pelvic exams; accidents/trauma.
In male puberty, what initiates the order of pubertal events: pubic hair growth, penile lengthening, testicular enlargement, or attainment of maximal height velocity?
In female puberty, what initiates the order of pubertal events: pubic hair growth, breast budding, menarche, or attainment of maximal height velocity?
Testicular enlargement is the first pubertal even that occurs in males, followed by the other events in no specific order.
Breast budding (thelarche) is the first pubertal even that occurs in females, followed by the other events in no specific order.
If a posterior fontanelle happens to be open at birth, doesnt close by 6 months, and it is large, what condition are you thinking?
Which one does NOT cross the suture lines: caput succundeaum or cephalohematoma?
Which of the following is sharply demarcated: a bruise or a Mongolian spot?
Cephalohematoma does NOT cross suture lines. Caput Succundeaum are the "conehead babies" and will resolve faster than cephalohematomas. Remember that the cephalohematoma is a risk factor for neonatal jaundice.
Mongolian spots are sharply demarcated and are often near the sacral area.
If you a newborn with stridor and subsequently has red, macular lesion that does not blanch upon pressing. What might you consider?
A capillary hemangioma around the subglottic area causing respiratory distress.
A baby has hemihypertrophy, aniridia, and genital abnormality. What is he at risk for?
Wilms syndrome. This is classic WAGR syndrome.
Whenever you see epispadia or hypospadia, what is contraindicated?
LGA infants are prone to trauma during delivery. What's the most common traumatic injury?
Clavicular fracture. Mom will say that she felt a knot/mass near the upper chest in the newborn, and you will also feel crepitus (feels like rice-krispies) during physical exam. Tx is not necessary and will heal on itself.
A newborn baby is delivered at a rural hospital where little prenatal and newborn screening is performed. The baby comes in for 1 month check-up and has fair skin, fair hair, blue eyes, and a musty odor to him. The doctor notices eczema periorally on the baby, but the diaper area is spared. The doctor sends him to the city hospital to get a screen done, as he is suspecting what?
PKU (phenyl-ketonuria), an autosomal recessive disease.. The most common symptom in these children is mental retardation, among the others listed in the question stem.
A newborn has cataracts, jaundice, hypoglycemia, and vomiting.
Galactosemia. This condition is a contraindication to breastfeeding. Other contraindications include syphilis, varicella, active/untreated Tb, herpetic breast lesions, and AIDS/HIV.
The baby has a large posterior fontanelle, jaundice, and mottled skin. He doesn't pass stool very much, has an umbilical hernia, and a protruding tongue. Dx?
Hypothyroidism. T4 is low, and TSH is high.
A newborn baby is jaundiced on the first day of life and has been passing whitish-clay colored stools since birth. Bilirubin levels were obtained, and came back as a high direct bilirubin. Diagnosis?
Further, the new intern puts this baby under phototherapy causing the baby to have bronze skin, but the jaundice doesn't look much better. Dx? Reason?
Biliary atresia.
Bronze baby syndrome. Photolight therapy does not make direct bilirubin soluble, therefore does not help excrete it and the therapy is useless. A Kasai procedure is necessary.
Clinical Pearls from Dr. Eduardo Pino:
Limps --> other than trauma, separate them into groups: DDH (0-3yrs), LCP (4-8yr), SCFE (adolescents).
Painless, non-pulsatile mass on the back of the knee = Baker's cyst --> benign, just give parents reassurance.
Pt is on antibiotics for a while and gets diarrhea = C.diff, order stool test for it.
Whole milk is only good for baby cows or babies over 1 year.
The majority of patients that are obese are due to eating too much, not glandular problems.
Most newborn reflexes disappear by 4-6 months of age. Parachute reflex never goes away. Pincer at 9 months age. 3 cubes at 15mo, 4 cubes at 18, 7 at 24 months.
Social smile at 4 weeks of age.
Hereditary angioedema = deficiency of C1 esterase inhibitor; characterized by recurrent, non-pitting edema that runs in families.
Bruton's (pan-) Agammaglobulinemia = at 6 months of age, pt will start recurrent infections (esp pneumococcus... pna's and abscesses); all Ig's are low... Tx= replace IgGs
Gold standard for Hirschsprungs = biopsy
Iron deficiency is the most common anemia of childhood.
Sickle cell anemia will start manifesting after a few months of life (b/c HbF production starts to go down). Diagnose via Hb electrophoresis.
Craniopharyngioma: enlarged sella turcica on CT, common cause of short stature.
JONES Criteria for Rheumatic fever (i.e. the sequela of Strep throat) = Joint arthralgia, Carditis, Nodules (subq), erythema marginatum (rash), syndenhaam's chorea... if you meet 2 of these, you have RF.
How can you diagnose GERD? pH probe in the esophagus.