A 14 yo girl presents for evaluation. She had a urine dipstick done at school by the nurse and was told it showed protein. She is not hypertensive and has no family history of renal disease. She is growing well and recently had a growth spurt. Repeat urine in your office shows proteinuria again. Otherwise UA is normal.
What diagnosis should you consider first?
Benign orthostatic proteinuria
What cardiac condition is associated with Williams syndrome?
Supravalvular aortic stenosis
A 10 yo boy has the following recurrent seizure episodes:
- Morning myoclonic jerking
- History of absence seizures
- Normal intelligence
- Family history of similar seizures
- GTC occurring just after awaking or during sleep
What condition causes the type of seizure he is having?
Juvenile myoclonic epilepsy (Janz syndrome)
A previously unimmunized child presents at 4 months of age.
Which routinely recommeneed vaccine is it now too late to give her?
Rotavirus Vaccine
A 2yo girl presents with:
- High fever
- Brassy cough
- Stridor
She is given treatment for croup but does not respond, and she deteriorates rapidly. She is intubated in the ED.
What is the most likely diagnosis?
Bacterial tracheitis
What RTA most commonly causes renal stones?
RTA type 1 (distal)
What cardiac condition has the classic CXR that shows a “snowman” or “figure-8” silhouette?
Total anomalous pulmonary venous return
A 9 mo presents with increased lethargy. The grandmother brought her in because she is worried that the child may have been abused. She notes that she has witnessed the mother “shaking the child” vigorously in the past.
Which type of intracraneal bleed should you be concerned about in this child?
Subdural hematoma
A child has not had any immunizations.
Assuming that the child is immunocompetent, what is the cut-off age for receiving a Haemophilus influenza type b vaccine?
>5 years of age
A 10 yo girl presents with:
- Nasal stuffiness
- Mouth breathing
- A ”nasal” voice
- History of recurrent pneumonia
- On PE, you note nasal polyps
For what diagnosis should she be screened and/or tested?
Cystic fibrosis
What is the most common cause of obstructive uropathy that leads to renal failure in childhood?
Posterior urethral valves
A 13-year-old boy presents with:
What is the most likely diagnosis?
Mitral valve prolapse
2 yo child with history of infantile spasm has gradually developed the following findings:
- Severe tonic seizures
- Intellectual disability
An EEG shows generalized bilateral synchronous sharp wave and slow wave complexes occurring in a repetitive fashion in long runs at ~2 seconds.
What syndrome does this child likely have?
Lennox-Gastaut Syndrome
What are the 4 subcutaneously administered vaccines?
MMR
Varicella
MMRV
IPV
A 17yo was visiting his grandparents in Indiana over the summer. 2 months after cleaning out his grandfather’s chicken coop, he presents with:
- Mild respiratory symptoms
- Low-grade fever
- CXR shows a few focal infiltrates with hilar adenopathy
What is the most likely etiology of his symptoms?
Histoplasmosis
A young boy presents with the following:
- Absence of, or deficiency in, abdominal wall musculature
- Cryptorchidism
- Dilation of the prostatic urethra, bladder, and ureters.
What is the syndrome associated with these findings?
Prune belly syndrome (Eagle-Barrett Syndrome)
An asymptomatic 10-year-old presents with:
What is the most likely diagnosis?
Pulmonary Stenosis
A 17yo girl presents with:
- Optic neuritis
- Oculomotor disturbance
- Incoordination in her upper extremities with dropping of objects
- Sensory deficit
- CSF shows an increase in IgG and oligoclonal bands
- MRI shows demyelination
What is the most likely diagnosis?
Multiple sclerosis
A girl can do the following:
- Run well
- Climb up and down stairs with 2 feet in each step
- Balance on 1 foot for 2-3 seconds
- Dress herself (except buttons in the back)
- Use 3 word sentences
Se cannot:
- Hop on 1 foot
- Use 4 word sentences
- Skip
How old is she?
3 years old
A 17 yo boy from NW Arkansas,, who hunts frequently, presents with a 1 month history of:
- Low-grade fever
- Cough with occasional hemoptysis
- Chest pain
- 10 lb weight loss
- Several verrucous lesions with irregular borders and micro abscess formation at the periphery on the left arm
- CXR shows upper lobe infiltrate with a cavity lesion
What is the most likely diagnosis?
Blastomycosis
A newborn presents with:
- History of oligohydramnios
- Low-set ears
- Flat nose
- Retracted chin
- Palpable enlarged kidneys
- Hypertension
- Hepatic fibrosis
What is the most likely diagnosis?
Autosomal recessive polycystic kidney disease (ARPKD)
A high school basketball player dies while playing in a game. Hypertrophic cardiomyopathy is ruled out as a cause.
What is the next most likely cause of sudden death in a high school athlete?
Anomalous origin of the left coronary artery from the aorta
A 5 month old infant presents with:
- Constipation
- Generalized weakness
- Decreased ability to suck
- Poor gag reflex
- Loss of DTRs
- Facial diplegia
- Lack of pupillary response to light
- Ptosis
- Dry mouth
What is the likely diagnosis?
Botulism
What is the most common type of craneosynostosis?
Scaphocephaly
An 8 yo girl presents with:
- Iron deficiency anemia, that was initially diagnosed a year ago
- Progressive dyspnea
- Fatigue
- Recurrent cough with new onset hemoptysis
- Sputum shows hemosiderin-laden alveolar macrophages
What is the most likely diagnosis?
Idiopathic Pulmonary Hemosiderosis (IPH)