ATI RN
Endocrine System Pediatric Questions
Question 1 of 4
All the following are features of congenital erythropoietic porphyria (CEP) EXCEPT
Correct Answer: A
Rationale: CEP, a cutaneous porphyria, causes reddish urine (B), erythrodontia (C), photosensitivity (D), and hyperbilirubinemia (E). Neuropathy (A) is typical of acute porphyrias like AIP.
Question 2 of 4
Smith Lemli-Opitz Syndrome (SLOS) is characterized by all the following EXCEPT
Correct Answer: A
Rationale: SLOS features cleft palate (B), microcephaly (C), retromicrognathia (D), and retardation (E). Epispadias (A) is not typical; hypospadias is more common.
Question 3 of 4
All the following are characteristic features of infantile Refsum disease EXCEPT
Correct Answer: B
Rationale: Infantile Refsum disease features ataxia (A), hearing loss (C), cognitive impairment (D), and retinal degeneration (E). Hypertonia (B) is less typical, with hypotonia more common.
Question 4 of 4
Xanthomas are a feature of all the following EXCEPT
Correct Answer: D
Rationale: Xanthomas occur in hypercholesterolemia (A), dysbetalipoproteinemia (B), and combined hyperlipidemia (C). Familial chylomicronemia (D) and hypertriglyceridemia (E) cause pancreatitis, not xanthomas.