Appropriate therapy for patients with pyridoxine dependency with seizures is:

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Question 1 of 5

Appropriate therapy for patients with pyridoxine dependency with seizures is:

Correct Answer: D

Rationale: Vitamin B6 at 10-100 mg/kg is the standard treatment for pyridoxine-dependent seizures (NORD). Lower doses (C, D) may suffice for deficiency, not dependency.

Question 2 of 5

A newborn appears with abdominal distension and failure to pass meconium within the first 48 hours of life. Abdominal x-ray reveals multiple air-fluid levels and dilated loops of bowel. Most likely diagnosis is:

Correct Answer: D

Rationale: Meconium ileus fits delayed meconium with air-fluid levels, common in cystic fibrosis, per AAP. A-C, E have different x-ray findings.

Question 3 of 5

Most common electrolyte abnormality in patients with cystic fibrosis is:

Correct Answer: A

Rationale: Hyponatremia is common in cystic fibrosis from salt loss in sweat, per CFF. B-E are less frequent.

Question 4 of 5

A newborn failed to pass meconium within the first 24 hours of life. Physical examination reveals abdominal distension and a palpable mass in the left lower quadrant. Most likely diagnosis is:

Correct Answer: C

Rationale: Hirschsprung disease fits delayed meconium and a mass from stool retention, per AAP. A, B, D, E differ.

Question 5 of 5

A 2-year-old boy presents with developmental delay and coarse facial features. Urine shows increased glycosaminoglycans. Most likely diagnosis is:

Correct Answer: B

Rationale: Mucopolysaccharidosis features coarse facies and glycosaminoglycan buildup, per NORD. A, C-E have distinct phenotypes.

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