Rickets is defined as decreased bone mineralization in growing children. Hypocalcemia may accompany rickets. Of the following, the condition that causes hypocalcemia rather than rickets is

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Pediatric Endocrine System Questions

Question 1 of 5

Rickets is defined as decreased bone mineralization in growing children. Hypocalcemia may accompany rickets. Of the following, the condition that causes hypocalcemia rather than rickets is

Correct Answer: C

Rationale: Primary hypoparathyroidism causes hypocalcemia without defective bone mineralization (rickets), unlike vitamin D deficiency (A), biliary atresia (B), renal failure (D), and hypophosphatemia (E), which impair mineralization.

Question 2 of 5

Nocturnal enuresis is best described as

Correct Answer: B

Rationale: Nocturnal enuresis is the involuntary loss of urine during sleep, treatable with behavioral strategies or medications like anticholinergics or DDAVP in selected cases.

Question 3 of 5

Galactosemia is an autosomal recessive disease characterized by all the following EXCEPT

Correct Answer: C

Rationale: Galactosemia (galactose-1-phosphate uridyltransferase deficiency) causes hyperbilirubinemia, coagulopathy, glycosuria, and aminoaciduria from galactose accumulation, but hyperglycemia is not typical as glucose metabolism is unaffected.

Question 4 of 5

A 3-week-old neonate presented with poor feeding, vomiting, and tachypnea with profound depression of the central nervous system, associated with alternating hypotonia and hypertonia, opisthotonos, and seizures. Laboratory manifestations reveal hypoglycemia and metabolic acidosis with high anion gap. Of the following, the MOST likely diagnosis is

Correct Answer: D

Rationale: Maple syrup urine disease (MSUD) presents neonatally with feeding issues, CNS depression, tone changes, seizures, hypoglycemia, and high-anion-gap acidosis from branched-chain amino acid accumulation, matching this case.

Question 5 of 5

A relative parents brought their underweight 6-month-old female infant who has high foreheads, flat orbital ridges, widely open fontanelles, hepatomegaly, hypotonia, and nystagmus; she had history of recurrent seizures. Of the following, the MOST likely diagnosis is

Correct Answer: B

Rationale: Zellweger syndrome, a peroxisomal disorder, presents with dysmorphic features (high forehead, flat ridges), hepatomegaly, hypotonia, seizures, and nystagmus, consistent with this case and consanguinity.

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