ATI RN
Pediatric Endocrine System Questions
Question 1 of 5
A 10-month-old Ashkenazi Jewish female manifests hypotonia and macrocephaly. By 18 months of age, she has hyperreflexia and optic atrophy. Additional problems include failure to thrive and swallowing difficulties. MRI demonstrates diffuse white matter degeneration of the cerebral cortex. The most likely diagnosis is
Correct Answer: D
Rationale: Canavan disease, common in Ashkenazi Jews, causes macrocephaly, white matter degeneration, and neurologic decline.
Question 2 of 5
All of the following are present in children with homozygous familial hypercholesterolemia EXCEPT
Correct Answer: A
Rationale: Homozygous FH causes severe hypercholesterolemia, not hypertriglyceridemia.
Question 3 of 5
Matching: Lipidosis - Mucolipidosis I
Correct Answer: D
Rationale: Mucolipidosis I (sialidosis) typically lacks these features.
Question 4 of 5
Matching: Glycogen storage diseases - Pompe
Correct Answer: C
Rationale: Pompe (type II) features cardiomegaly and hypotonia.
Question 5 of 5
The following criteria are needed for the diagnosis of syndrome of inappropriate secretion of antidiuretic hormone (SIADH) EXCEPT
Correct Answer: B
Rationale: SIADH requires hyponatremia with low serum osmolality (not normal, as in B), high urine osmolality (C), high urinary sodium (A), normal organ function (D), and euvolemia (E).