ATI RN
Endocrine System Pediatric Questions
Question 1 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 2 of 5
The best approach to the diagnosis of the patient in the previous question is
Correct Answer: B
Rationale: Fumarylacetoacetate hydrolase assay confirms tyrosinemia type I by detecting enzyme deficiency.
Question 3 of 5
Matching: Hemizygotic male has complete syndrome
Correct Answer: D
Rationale: Nettleship-Falls ocular albinism is X-linked, fully expressed in hemizygous males.
Question 4 of 5
A 1-week-old infant presents with poor feeding, vomiting, lethargy, and opisthotonus posturing. The critical impression is meningitis, but all cultures are negative. Seizures occur and hypoglycemia is documented; however, the seizures do not stop after the hypoglycemia is corrected with intravenous glucose. The arterial blood gas is 7.10 PCO2 23, PO2 90, with an anion gap of 35. A CT scan demonstrates cerebral edema. The most likely etiology is
Correct Answer: D
Rationale: Organic acidemia (e.g., propionic or methylmalonic) causes acidosis, anion gap, seizures, and cerebral edema unresponsive to glucose.
Question 5 of 5
Matching: Dietary biotin deficiency
Correct Answer: C
Rationale: Dietary biotin deficiency, often from raw egg consumption (avidin binds biotin), causes skin and hair issues.