Progressive myoclonus and neuroregression – a dreadful combination

Abstract

Progressive myoclonic epilepsy (PME) is a gradually progressive neurological disorder characterized by the development of progressive myoclonus, ataxia, and cognitive impairment with other neurodeficits. There are a wide variety of PMEs, such as Lafora body disease (LBD), neuronal ceroid lipofuscinoses, Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fiber syndrome, sialidoses, dentato-rubro-pallidal atrophy, storage diseases, and some of the inborn errors of metabolism, among others. Although the modern genetic tests are helpful in discerning underlying etiology, the clinical differentiation is often possible with historical background and clinical examination. We report a case of PME, where we suspected LBD on basis of clinical history and examination, which was confirmed with skin biopsy and next-generation sequencing.