A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Senem AYÇA; Hamide Betül GERİK ÇELEBİ; Fethi Sırrı ÇAM; Muzaffer POLAT

A Case of Pyridoxine Dependent Epilepsy Presented with Status Epilepticus

Date

2019

Authors

Senem AYÇA

Hamide Betül GERİK ÇELEBİ

Fethi Sırrı ÇAM

Muzaffer POLAT

Abstract

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessiveencephalopathy due to mutations in the ALDH7A1 gene. Intractableseizures are the most frequent clinical form in the early infantileperiod. A case of a 4-month-old female patient presented to ourhospital with status epilepticus. Her seizures started in the neonatalperiod and partial response to phenobarbital was seen. Her seizurescould not be controlled with appropriate antiepileptic treatment.The seizure stopped with 100 mg of intravenous pyridoxineadministration. The diagnosis of PDE was considered and ALDH7A1gene mutation analysis revealed homozygous missense mutation.Pyridoxine should be administrated in case of intractable seizuresand should be included in status epilepticus treatment protocol.Diagnosis of PDE should be considered especially in our countrywhere consanguineous marriage is frequently seen.