Muscle-eye-brain Disease and Drug-resistant Seizures: Unravelling the Phenotypic Heterogeneity of Congenital Muscular DystrophiesDeepak Menon, Joseph Samuel, Sai Satish, Ramshekhar Menon, Bejoy Thomas and Ashalatha Radhakrishnan*
Department of Neurology, Sree Chitra Tirunal Institute of Medical Sciences and Technology, Trivandrum, Kerala, India
- *Corresponding Author:
- Dr Ashalatha Radhakrishnan
R. Madhavan Nayar Center for Comprehensive Epilepsy Care
Department of Neurology
Sree Chitra Tirunal Institute of Medical Sciences and Technology
Trivandrum, Kerala, India
Tel: 91- 471 - 2524282
E-mail: [email protected]
Received date: June 10, 2016; Accepted date: June 20, 2016; Published date: June 25, 2016
Citation: Menon D, Samuel J, Satish S, Menon R, Thomas B, et al. (2016) Muscle-eye-brain Disease and Drug-resistant Seizures: Unravelling the Phenotypic Heterogeneity of Congenital Muscular Dystrophies. J Epilepsy 2:107. doi: 10.4172/2472-0895.1000107
Copyright: © 2016 Menon D, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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.