open access

Vol 48, No 1 (2014)
Case reports
Submitted: 2013-01-01
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Mitochondrial encephalomyopathy: Towards diagnosis. A case report

Małgorzata Gaweł, Biruta Kierdaszuk, Katarzyna Tońska, Magdalena Kaliszewska, Justyna Kubiszewska, Zygmunt Jamrozik, Ewa Bartnik, Hubert Kwieciński, Anna M. Kamińska
DOI: 10.1016/j.pjnns.2013.09.003
·
Neurol Neurochir Pol 2014;48(1):76-80.

open access

Vol 48, No 1 (2014)
Case reports
Submitted: 2013-01-01

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.

Get Citation

Keywords

Mitochondrial encephalomyopathy, Molecular genetics, mtDNA, Muscle biopsy

About this article
Title

Mitochondrial encephalomyopathy: Towards diagnosis. A case report

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 48, No 1 (2014)

Pages

76-80

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

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