[Mitochondrial encephalomyoneuropathy. Case report].
Mitochondrial myopathies and encephalomyopathies constitute a group of degenerative disorders characterized by a striking degree of clinical, biochemical and genetic heterogenity. We present a case of a 42-year old woman with clinical, electrophysiological and laboratory features of a mitochondrial encephalomyoneuropathy. A muscle biopsy specimen showed ragged-red fibres. Signs of demyelination and remyelination of a few fibers were observed in a sural nerve biopsy specimen. MR imaging revealed symmetrical multifocal white matter lesions predominantly in the parieto-occipital region. We stress the benefitial therapeutic effect of CoQ since it resulted in marked alleviation of some signs of the disease.
Pavlović
S
S
Kostić
V
V
Cvetković
D
D
Trikić
R
R
Dragutinović
G
G
D000328:Adult; D005260:Female; D006801:Humans; D017237:Mitochondrial Encephalomyopathies / Q000175:diagnosis / Q000188:drug therapy / Q000473:pathology; D014451:Ubiquinone / Q000627:therapeutic use
D014451:Ubiquinone