ATI RN
Endocrine System Pediatric Questions
Question 1 of 5
Mucopolysaccharidoses (MPS) affect many solid organs, hepatosplenomegaly or hepatomegaly is usual finding, but the liver and spleen are normal in
Correct Answer: C
Rationale: MPS III (Sanfilippo) typically lacks hepatosplenomegaly, focusing on neurological deterioration, unlike other MPS types where organomegaly is common.
Question 2 of 5
Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Methionine malabsorption
Correct Answer: A
Rationale: Methionine malabsorption (oasthouse syndrome) produces a cabbage-like or malty odor from unmetabolized methionine.
Question 3 of 5
Matching: Match the disease with its enzyme - β-Hexosaminidase A
Correct Answer: C
Rationale: Tay-Sachs disease is caused by β-hexosaminidase A deficiency, resulting in GM2 ganglioside buildup.
Question 4 of 5
Plasma very-long-chain fatty acids are elevated in all of the following peroxisomal disorders EXCEPT
Correct Answer: B
Rationale: Rhizomelic chondrodysplasia punctata involves plasmalogen synthesis defects, not VLCFA elevation, unlike the others.
Question 5 of 5
A 10-year-old girl is noted on a routine physical examination to have splenomegaly. Laboratory testing reveals thrombocytopenia and moderate edema, and she is referred to a hematologist for further evaluation. Bone marrow aspiration is performed and reveals the presence of Gaucher cells. When discussing therapeutic options with the parents of this child, it would be most appropriate to include which of the following statements?
Correct Answer: D
Rationale: Enzyme replacement therapy (e.g., imiglucerase) effectively reverses hematologic issues in Gaucher type I.