Linked Life Data

9812422

Source:http://linkedlifedata.com/resource/pubmed/id/9812422

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1998-12-14
pubmed:abstractText
A 27-year-old man with slowly progressing symptoms of pigmentary retinal degeneration, cerebellar, pyramidal and extrapyramidal syndrome and atrophy of lower limb muscles, was admitted to the Department of Neurology. During the final stage of disease, generalized, tonic and clonic seizures, absence and myoclonic epilepsy as well as Jackson's motor seizures were observed. A computed tomographic (CT) scan showed a considerable atrophy of cerebellum and pons. A magnetic resonance imaging (MRI) revealed diffuse cortical and subcortical atrophy, especially in structures of posterior intracranial fossa and bilateral foci of increased signal intensity in cerebral cortex and subcortical gray structures. A morphological study of a biceps specimen revealed the presence of so called ragged-red fibers characterized by abnormal mitochondria with paracrystalline inclusions. A considerable atrophy of the central nervous system, especially of cerebral and cerebellar cortex was revealed by a macroscopic study of the brain. Numerous focal and so called pseudolaminar cortical necroses in the brain, regardless of vascular supply, with characteristic proliferation of capillary vessels were predominating in a microscopic study. The clinical data and especially histopathological features count for the diagnosis of mitochondrial encephalomyopathy of MELAS type. The presence of additional features such as pigmentary retinal degeneration, characteristic of Kearns-Sayre syndrome and myoclonic seizures typical of MERRF syndrome allows the classification of this case as mixed MELAS syndrome.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
1641-4640
pubmed:author
pubmed:issnType
Print
pubmed:volume
34
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
193-8
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1996
pubmed:articleTitle
Mitochondrial encephalomyopathy of mixed MELAS type.
pubmed:affiliation
Department of Neuropathology, Institute of Psychiatry and Neurology, Warszawa.
pubmed:publicationType
Journal Article, Case Reports