A day 3 newborn develops recurrent generalized seizures unresponsive to phenobarbitone and phenytoin. Sepsis screen, glucose, calcium, magnesium and metabolic workup are normal. An interictal EEG shows burst suppression. The seizures stop completely within minutes of administering 100 mg of a vitamin intravenously. Which vitamin was given?
- A Pyridoxine ✓
- B Thiamine
- C Niacin
- D Folic acid
Correct answer: A. Pyridoxine
Explanation
Pyridoxine-dependent epilepsy is an autosomal recessive condition (antiquitin deficiency causing accumulation of pipecolic acid) that presents with neonatal seizures refractory to conventional anticonvulsants and often a burst suppression pattern on EEG. Dramatic cessation of seizures after intravenous pyridoxine 100 mg is diagnostic, and lifelong oral pyridoxine is required. Thiamine deficiency causes encephalopathy and cardiomyopathy rather than pure refractory neonatal seizures.
Reference: Nelson Textbook of Pediatrics, 21st ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
Written and medically reviewed by the StethoPrep medical team.