A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline

Copyright © 2013 D. Taylor et al.This is an open access article distributed under the Creative CommonsAttribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies. 1. Background Myoclonic epilepsy with red ragged fibers (MERRF) is a rare mitochondrial disorder associated not only with pro-gressive myoclonus and epilepsy but also with cognitive and functional decline in a young age group [1, 2]. The neurodegenerative nature of MERRF is demonstrated here with comparative neuropsychological testing of a 29-year-old female over a 9-year period which shows changes consistent with dementia