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Mitochondrial encephalomyopathy: Towards diagnosis. A case report
Affiliations- Department of Neurology, Medical University of Warsaw, 8 Kondratowicza str, 03-242 Warsaw, Poland
- Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, Warsaw, Poland
- Institute of Biochemistry and Biophysics, Polish Academy of Sciences, Warsaw, Poland
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Abstract
Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.
Abstract
Mitochondrial diseases may cause a wide range of central and peripheral nervous system disorders, as well as muscle disorders. The diagnostic workup routinely includes electrophysiological, morphological, neuroimaging and genetic studies. In some cases, the diagnosis may be ascertained only when mitochondrial DNA (mtDNA) examination in the muscle is performed. We report on a case of a 24-year-old woman, with a 7-year history of slowly progressive cerebellar syndrome and bilateral ptosis. Mitochondrial encephalomyopathy was suspected, based on the clinical picture and results of examinations, but the typical red ragged fibers were not found in the muscle biopsy. The results of molecular analysis of mtDNA showed a mtDNA deletion in the muscle and, on a level detectable only with polymerase chain reaction method, in blood leukocytes. This case emphasizes the important role of mtDNA studies in muscle in nonspecific multisystem mitochondrial disorders, even without clinical muscle involvement.
Keywords
Mitochondrial encephalomyopathy, Molecular genetics, mtDNA, Muscle biopsy
About this articleTitle
Mitochondrial encephalomyopathy: Towards diagnosis. A case report
Journal
Neurologia i Neurochirurgia Polska
Issue
Pages
76-80
Page views
220
Article views/downloads
281
DOI
10.1016/j.pjnns.2013.09.003
Bibliographic record
Neurol Neurochir Pol 2014;48(1):76-80.
Keywords
Mitochondrial encephalomyopathy
Molecular genetics
mtDNA
Muscle biopsy
Authors
Małgorzata Gaweł
Biruta Kierdaszuk
Katarzyna Tońska
Magdalena Kaliszewska
Justyna Kubiszewska
Zygmunt Jamrozik
Ewa Bartnik
Hubert Kwieciński
Anna M. Kamińska
