Dravet Syndrome: A Case Report
Abstract
Dravet syndrome is a rare genetic epileptic encephalopathy
characterized by drug resistant epilepsy. Patients present
with prolong febrile seizure with normal developmental
status in infancy. However patient may experience a halt or
decline of development usually after one year of age. This
type of presentation may mimic other neurological disorder
like simple febrile seizure, mitochondrial disorder and other
epileptic encephalopathies. Though clinical presentations
almost similar, confirmation require genetic evaluation
for counseling and management purpose. We recently
observed a two-year-old boy with Dravet syndrome confirmed
by identifying mutation of SCN1A gene. MRI of brain
revealed moderate cerebral atrophy and enlarged brain
ventricles.