Familial mitochondrial encephalomyopathy with stroke-like episodes and episodic disturbances of consciousness: a study of pedigree including three generations with multisystemic abnormalities.
We report here two cases in a family with pleomorphic clinical features which include mitochondrial myopathy, encephalopathy, stroke-like episodes, episodic disturbances of consciousness and other multisystemic abnormalities. The other signs observed in multisystemic abnormalities were ophthalmoplegia, short stature, diabetes mellitus, diabetes insipidus, renal dysfunction, optic atrophy, retinal degeneration, impairment of hearing and mental retardation or deterioration. A symptomatological variation was observed in cases in the same family. It is suggested that these widely varying symptoms may be expressions caused by a common biochemical defect which involves different tissues in different individuals in the family. The syndromes observed in the present cases were compared with other possibly-related mitochondrial encephalomyopathies.
D000328:Adult; D001921:Brain / Q000473:pathology; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000235:genetics*; D002648:Child; D003072:Cognition Disorders / Q000235:genetics*; D003244:Consciousness Disorders / Q000235:genetics*; D004569:Electroencephalography; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D014057:Tomography, X-Ray Computed