てんかんジャーナル

Muscle-eye-brain Disease and Drug-resistant Seizures: Unravelling the Phenotypic Heterogeneity of Congenital Muscular Dystrophies

Abstract

Deepak Menon, Joseph Samuel, Sai Satish, Ramshekhar Menon, Bejoy Thomas and Ashalatha Radhakrishnan

Muscle-Eye-Brain Disease (MEB) constitutes part of a spectrum of closely overlapping Congenital Muscular Dystrophies (CMD) and neuronal migration disorders. Here, we present a child with MEB presenting with refractory epilepsy, a rare disease and all the more, a rare presenting manifestation. We hereby highlight the rarity of the syndrome per say, its presentation as refractory seizures to an Epileptologist and the radiological characteristics which help diagnosing MEB accurately obviating the need for an invasive procedure like muscle biopsy and molecular genetic studies in centres with limited infrastructure.