Endocrinology
Development
Neurology
Cardiology
100

What test can help differentiate between constitutional growth delay and familial short stature?

Bone age 

- pt with genetic short stature will have a normal bone age, whereas a patient with constitutional growth delay will have a delayed bone age

100

By what age should infants be able to take their first few independent steps?

15 months 

100

Why are treatment with antibiotics contraindicated in treatment of infants with botulism?

Bacterial cell lysis -> release of intracellular toxin

- can potentiate the paralytic effect 

100

What cardiac anomaly can be caused lithium exposure in utero? 

Bonus: describe it

Ebstein anomaly 

(apical displacement of the tricuspid valve leaflets -> results in atrialization of a portion of the right ventricle)


200

Newborn is noted to have a protuberant abdomen, macroglossia, umbilical hernia. 

What diagnosis should be suspected?


Congenital hypothyroidism 



200

What is the language milestone that should be hit by 2 years? 

Should be able to put together 2-3 word phrases 

200

What is the difference on exam between Bell's palsy and an UMN lesion in the brain?

Bell's palsy -> forehead is affected

Brain lesion -> forehead is spared 



200

What is the immediate treatment required for unstable wide complex tachycardia?

Synchronized cardioversion

(if narrow complex and stable, can try vagal maneuvers)

300

What is the formula for calculating midparental height for boys?

(maternal height + paternal height + 13 cm) / 2

(maternal height + paternal height + 5 inches) /2

300

By what age should infants be able to sit without support, transfer objects from one hand to the other, and use fingers to rake food

9 months

300

What disease typically causes progressive distal weakness, sensory loss, depressed or no tendon reflexes, and high-arched feet (pes cavus)?

Charcot-Marie-Tooth

- aka hereditary motor sensory neuropathy

- typically presents in the 1st or 2nd decade and family hx is common

- muscle atrophy leads to "stork legs"

- upper extremities are eventually involved in the later stages 



300

Between what ages should children undergo screening for hyperlipidemia?

9-11 and 17-21

400

What is seen in the levels of phosphorus, calcium, alk phos, and PTH in patients with X-linked hypophosphatemic rickets?

Phos -> very low
Calcium -> normal
Alk phos -> high
PTH -> normal or slightly elevated 


In XLH, PHEX mutation → ↑ FGF23 → renal phosphate wasting + impaired vitamin D activation → hypophosphatemia → defective bone mineralization → rickets/osteomalacia.

- PTH is often unaffected

400

By what age should babies be able to make a social smile?

2 months 

400

A previously healthy 4-day-old infant develops multifocal seizures lasting <2 minutes over a 24 hour period.

Extensive workup is performed and within normal limits.

What is the likely diagnosis?

Benign neonatal seizures

- peaks at 4-6 days of life (aka "fifth day fits")

- often clonic and may be unifocal or multifocal

- diagnosis of exclusion

- usually lasts 24-48 hours and self-resolves

400

What is the most common cyanotic heart defect that manifests immediately after birth?

Transposition of the great arteries 

(cyanosis is usually noted on the 1st day of life and progresses rapidly as the PDA closes)

500

What diagnosis should be suspected in a pt who presents with loss of appetite, weight loss, tachycardia, and increased hyperpigmentation along the creases of the palms, mucosal surfaces of the tongue, palate, and gingival borders?

Addison disease (primary adrenal insufficiency)

- low levels of circulating corticosteroids leads to nausea, vomiting, fatigue

- mineralocorticoid deficiency results in hypotension, weakness, salt craving, dehydration with hyponatremia, hyperkalemia, and metabolic acidosis

- hallmark is hyperpigmentation -> increased melanocortin 



500

By what age should infants be able to pull to stand, walk with support, pincer grasp?

12 months 

500

What are 3 first-line treatment choices for infantile spasms?

ACTH
Prednisolone
Vigabatrin 


- vigabatran is the drug of choice for infantile spasms due to tuberous sclerosis

500

How many major and minor criteria are required to diagnose rheumatic fever?

Bonus: what are the major and minor criteria?

2 major criteria
OR
1 major and 2 minor criteria 


major -> carditis, erythema marginatum, subcutaneous nodules, polyarthritis, chorea

minor -> arthralgia, elevated acute phase reactants, prolonged PR interval, fever