A case of pyridoxine dependent epilepsy admitted with status epilepticus

Abstract

Background: Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive epileptic encephalopathy due to mutations in the ALDH7A1 gene. İntractable seizures is the most seen clinical form in the early infantil period. Patient: 4 months old female admitted our hospital with status epilepticus. Her seizures started in neonatal period and partial response seen to phenobarbital. Seizures could not be controlled although appropriate antiepileptic treatment. After 100 mg pyridoxine intravenously given seizures stopped. Diagnosis of PDE was suspected and ALDH7A1 gene mutation analysis revealed compound homozygous missense amino acid mutation. Before pyridoxine treatment she had developmental delay but after normal mental and motor development seen. Conclusion: PDE causes intractable epilepsy in newborn period and early infancy and untreated cases suffer developmental delay and intellectual disability. In the treatment protocol of status epilepticus and intractable epilepsy pyridoxine should be applied and in case of total or partial pyridoxine response diagnosis of PDE should be considered.