AN ATYPICAL PRESENTATION OF PYRIDOXINE DEPENDENT EPEILEPSY

Abstract

Pyridoxine dependent epilepsy (PDE) is a rare autosomal recessive disorder and is considered a protypical form of metabolic epilepsy. It is characterised by recurrent seizures in the prenatal, neonatal and/or postnatal periods that are resistant to conventional antiepileptic drugs, but responsive to pharmacological doses of pyridoxine. The point prevalence of PDE, may vary from 1:20,000 to 1:600,000, based on the degree of systemic ascertainment via therapeutic trial with pyridoxine. Often, pyridoxine dependent epilepsy can cause diagnostic dilemmas, due to lack of awareness of this clinical condition, wide spectrum of clinical manifestations and phenotype genotype variances. Accumulation of the toxic metabolites will lead to developmental delay and mental retardation on long term, which can be prevented by pyridoxine supplementation and restriction of lysine from diet. Hence, early detection of this condition is very important. Novel instrumental screening methods need to be developed for early detection of this condition to achieve better seizure control and prevent long term brain damage in this group of patients. Here, we report a case of a newborn who presented with atypical features of neonatal epileptic encephalopathy along with abdominal distension and a mixed seizure pattern who was diagnosed as pyridoxine dependent epilepsy on whole exome sequencing.