Miller dieker syndrome as a cause of refractory seizures

Abstract

Miller-Dieker syndrome is a genetic deletion syndrome characterized by neuronal migration disorder lissencephaly where the exterior of the brain is abnormally smooth with fewer folds and grooves and characteristic facial dysmorphism. A one year old boy born presented to our emergency with severe respiratory distress and recurrent convulsions. A diagnosis of Miller Diecker syndrome was made consistent with typical clinical features and investigations. The child was managed symptomatically, however the seizures remained refractory and the child succumbed on day three of admission. Diagnosis of rare diseases like this is necessary not only for management but also for predicting recurrence in the family and genetic counselling.