A 6-month-old infant presents with recurrent episodes of generalized seizures since day 3 of life, unresponsive to multiple antiepileptic drugs including phenytoin, phenobarbital, and benzodiazepines. EEG shows burst-suppression pattern. Which of the following should be trialed next?

• A IV thiamine 100 mg
• B IV biotin 10 mg
• C IV folinic acid 5 mg
• D IV pyridoxine (vitamin B6) 100 mg ✓

Explanation

Pyridoxine-dependent seizures is an autosomal recessive disorder presenting with refractory seizures in neonates and infants. D trial of IV pyridoxine (100 mg) is diagnostic and therapeutic. Seizures stop dramatically within minutes. It should be considered in any infant with unexplained refractory seizures. Biotin, folinic acid, and thiamine are used for other specific metabolic epilepsies but pyridoxine is the most common and testable.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.