A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline. (11th April 2013)

• Record Type: Journal Article
• Authors: Taylor, D.; Haynes, H. R.; Graham, A.; Gerhand, S.; Kurian, K. M.
• Other Names: Ateş Ö. Academic Editor.; Kocaeli H. Academic Editor.; Litofsky N. S. Academic Editor.; Rajajee V. Academic Editor.; Simone I. L. Academic Editor.
• Is Part Of: Case reports in neurological medicine. Volume 2013(2013)
• Publication Date: 2013-04-11
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; Neurology; Nervous System Diseases; Nervous system -- Diseases; Neurology; Electronic journals; Periodicals; Periodicals; 616.8
• DOI: 10.1155/2013/125672
• Languages: English
• ISSNs: 2090-6676

Abstract

Abstract : 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.