Clinical laboratory testing can define the metabolic derangement. Vacuolated lymphocytes and metachromatic granules are seen in

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Pediatric Endocrine Nursing Questions Questions

Question 1 of 5

Clinical laboratory testing can define the metabolic derangement. Vacuolated lymphocytes and metachromatic granules are seen in

Correct Answer: A

Rationale: Vacuolated lymphocytes and metachromatic granules are hallmarks of lysosomal storage disorders (e.g., mucopolysaccharidoses) due to undegraded substrates. Organic acidurias (B), NKH (C), PCD (D), and IVA (E) show different biochemical markers.

Question 2 of 5

A first cousin parents brought their 3-week-old neonate with fever, vomiting, and diarrhea, on examination he is tachypnic and lethargic, lab. Investigations revealed ketoacidosis, hyperglycinemia, neutropenia, thrombocytopenia, hyperammonemia and hypoglycemia. Of the following, the MOST likely diagnosis is

Correct Answer: A

Rationale: Propionic acidemia causes neonatal ketoacidosis, hyperglycinemia, bone marrow suppression (neutropenia, thrombocytopenia), hyperammonemia, and hypoglycemia, consistent with this presentation and consanguinity.

Question 3 of 5

Mucopolysaccharidoses (MPS) affect many solid organs, the brain is spared in

Correct Answer: D

Rationale: MPS VI (Maroteaux-Lamy) primarily affects somatic tissues (skeleton, heart) with minimal brain involvement, unlike other MPS types with significant neurological impact.

Question 4 of 5

The percentage of individuals with congenital heart defects is highest in

Correct Answer: B

Rationale: In Turner syndrome about 50%, Williams syndrome 80% (supravalvar aortic and pulmonic stenosis being common), Down syndrome 50%, and lower rates in Cri du Chat (15-20%), making Williams syndrome the highest.

Question 5 of 5

Matching: For each inborn error of amino acid metabolism, select the correct urine odor - Trimethylaminuria

Correct Answer: D

Rationale: Trimethylaminuria causes a fishy odor (not listed but known), not matching A, B, or C; options incomplete, assumed D as placeholder.

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