Nocturnal enuresis is best described as

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Pediatric Endocrine System Questions

Question 1 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 2 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 3 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.

Question 4 of 5

In children with Down syndrome (DS), the type of leukemia varies by age. In those younger than 2 years, it is generally

Correct Answer: D

Rationale: In children with DS younger than 2 years, the type is generally acute megakaryoblastic leukemia; in individuals older than 3 years, acute lymphoblastic leukemia predominates.

Question 5 of 5

Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Glutaric acidemia (type II)

Correct Answer: C

Rationale: Glutaric acidemia type II produces a sweaty feet-like odor due to accumulation of organic acids from fatty acid oxidation defects.

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