Nokea
A 3-year-old with a head injury should be monitored for
- A. Pupil response
- B. Breathing
- C. Consciousness
- D. All of the above
Correct Answer: D
Rationale: All D assess head injury, per document p47, 0.
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What is the risk the fetus will be affected?
- A. 1 in 2
- B. 1 in 4
- C. 1 in 50
- D. 1 in 200
Correct Answer: B
Rationale: Spinal muscular atrophy (SMA) type 2 is autosomal recessive. If the mother’s new partner is a carrier (assuming population risk isn’t specified), the risk is 1 in 4 (Choice B): 25% chance the fetus inherits two mutated SMN1 alleles (50% from each carrier parent). 1 in 2 (Choice A) applies if one parent is affected. 1 in 50 (Choice C) or 1 in 200 (Choice D) suggest unrelated carrier frequencies, not applicable without data. 1 in 4 is standard for recessive inheritance with two carriers.
Prenatal diagnosis of affected male fetus with adrenoleukodystrophy is made by:
- A. Elevated MCFA levels in cultured amniocytes
- B. Decreased MCFA levels in chorionic villus cells
- C. Prenatal ultrasonography performed by an expert
- D. Fetal hyperactivity in utero
Correct Answer: A
Rationale: Elevated VLCFA in cultured amniocytes diagnoses adrenoleukodystrophy prenatally (NORD). B-E are not diagnostic.
A 14-year-old boy appears with tall stature, long limbs, and a heart murmur. Echocardiogram reveals aortic root dilation. Most likely diagnosis is:
- A. Klinefelter syndrome
- B. Marfan syndrome
- C. Growth hormone excess
- D. Hyperthyroidism
Correct Answer: B
Rationale: Marfan syndrome fits tall stature, long limbs, and aortic dilation, per AAP (doc p151, Q606).
A child is diagnosed with hypoalbuminemia. Her total serum calcium level is normal. Most likely associated finding that may be missed is:
- A. Hypocalcemia
- B. Hypercalcuria
- C. Hypomagnesemia
- D. Hypercalcemia
Correct Answer: D
Rationale: Hypoalbuminemia lowers bound calcium; a normal total calcium suggests hypercalcemia in ionized form, often missed (UpToDate). A-C, E don’t fit.
A 3-year-old girl presents with recurrent ear infections and hearing loss. Tympanometry shows flat curves. Most likely diagnosis is:
- A. Acute otitis media
- B. Otitis media with effusion
- C. Cholesteatoma
- D. Mastoiditis
Correct Answer: B
Rationale: OME causes flat tympanometry, per AAP. A, C-E differ.