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Mitochondrial encephalomyopathy, lactic acidosis, stroke‐like episodes (MELAS): Clinical, radiological, pathological, and genetic observations
Author(s) -
Koo Betty,
Becker Laurence E.,
Chuang Sylvester,
Merante Frank,
Robinson Brian H.,
MacGregor Daune,
Tein Ingrid,
Ho Vincent B.,
McGreal Douglas A.,
Wherrett John R.,
Logan William J.
Publication year - 1993
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410340107
Subject(s) - mitochondrial encephalomyopathy , lactic acidosis , medicine , melas syndrome , mitochondrial myopathy , mitochondrial encephalomyopathies , pathological , stroke (engine) , infarction , pathology , gastroenterology , cardiology , mitochondrial dna , biology , myocardial infarction , genetics , mechanical engineering , gene , engineering
Abstract We reviewed 10 patients (5 males, 5 females) with mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes. The age of symptom onset ranged from 3 months to 12 years. All had lactic acidosis, multiple stroke‐like events with secondary neurological deficits, radiological changes of progressive brain infarction, and muscle biopsy showing ragged‐red fibers. In patients with earlier onset of symptoms (<2 yr), involvement tended to be more diffuse, with failure to thrive and early onset of delayed development. Patients whose symptoms appeared later tended to have focal neurological deficits with migraine‐like headache, and a rate of cognitive regression reflecting the rapidity of disease progression. Radiological changes included multiple areas of infarction with initial predilection for parietal occipital areas, progressing to generalized atrophy. Pathological findings in muscle biopsies included type 1 fiber predominance, ragged‐red fibers, increased intermyofibrillar lipid deposition, and abnormal mitochondria. Four patients showed mitochondrial DNA tRNA mutation at position 3,243. No difference was noted in clinical, radiological, or pathological findings in patients with and without this mutation, suggesting that multiple sites of point mutation may give rise to mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes.