Mitochondrial encephalomyopathy: Towards diagnosis. A case report

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 mit...

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Bibliographic Details
Published in:Neurologia i neurochirurgia polska 2014-01, Vol.48 (1), p.76-80
Main Authors: Gaweł, Małgorzata, Kierdaszuk, Biruta, Tońska, Katarzyna, Kaliszewska, Magdalena, Kubiszewska, Justyna, Jamrozik, Zygmunt, Bartnik, Ewa, Kwieciński, Hubert, Kamińska, Anna M.
Format: Article
Language:English
Subjects:
Ataxia - genetics
Ataxia - physiopathology
Base Sequence
Biopsy
Case reports
DNA Mutational Analysis
DNA, Mitochondrial - genetics
Electrodiagnosis
Electroencephalography
Electromyography
Female
Genetic Markers
Humans
Magnetic Resonance Imaging
Medical diagnosis
Mitochondrial DNA
Mitochondrial Encephalomyopathies - diagnosis
Mitochondrial Encephalomyopathies - physiopathology
Mitochondrial encephalomyopathy
Molecular genetics
Molecular Sequence Data
mtDNA
Muscle biopsy
Muscle, Skeletal - pathology
Muscle, Skeletal - physiopathology
Neural Conduction
Neurologic Examination
Polymerase Chain Reaction
Young Adult
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Summary: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.
ISSN:0028-3843
1897-4260
DOI:10.1016/j.pjnns.2013.09.003