ATI RN
Endocrine System Pediatric Questions
Question 1 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 2 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 3 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.
Question 4 of 5
A 5-day-old infant manifests tachypnea, poor feeding, vomiting, and decreased responsiveness. A sepsis workup is performed, and the child is started on a D10W infusion and receives ampicillin and cefotaxime. The condition worsens, and the child becomes unresponsive to stimuli. All cultures are negative after 48 hours. The arterial blood gas is 7.45, PCO2 36, PO2 100, the anion gap is normal, the blood glucose is 75 mg/dL, and serum ammonia is 500 μM. The most likely diagnosis is
Correct Answer: B
Rationale: Urea cycle defects (e.g., OTC deficiency) cause hyperammonemia without acidosis, fitting this profile.
Question 5 of 5
Chronic therapy for the patient in the previous question is best characterized by
Correct Answer: A
Rationale: Avoiding prolonged fasting prevents hypoglycemia in MCAD deficiency by maintaining glucose levels.