A neonate develops recurrent seizures within the first week of life that fail to respond to phenobarbitone and phenytoin. There is no evidence of infection, hypoglycemia, hypocalcemia, or structural brain lesion. Which of the following is the MOST appropriate next therapeutic step?
- A Intravenous pyridoxine 100 mg ✓
- B Intravenous biotin 10 mg
- C Intravenous levetiracetam load
- D Intravenous folic acid 5 mg
Correct answer: A. Intravenous pyridoxine 100 mg
Explanation
Pyridoxine-dependent epilepsy, caused by ALDH7A1 mutations, presents as neonatal seizures refractory to standard anticonvulsants that cease promptly after intravenous pyridoxine 100 mg. Diagnostic markers include elevated alpha-aminoadipic semialdehyde and pipecolic acid in urine or plasma. Lifelong oral pyridoxine prevents recurrence. Levetiracetam would have been tried empirically but the exam point is response to pyridoxine as both diagnostic test and treatment.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.