We report two siblings with a mitochondrial encephalomyopathy. The syndrome was characterized by ataxia, intellectual impairment, myoclonic jerks, rare seizures, and small stature. Muscle biopsy specimens showed abnormal accumulations of mitochondria and lipid droplets. Biochemical studies on muscle demonstrated decreased succinate-cytochrome c reductase activity in the mitochondrial respiratory chain.
A remarkably observant 89-year-old woman experienced the abrupt onset of musical hallucinations on the background of longstanding progressive hearing loss and in the absence of psychosis or major dementia. These hallucinations were nearly constant, wellformed perceptions of religious hymns, and their content could be altered by several mechanisms. The patient also occasionally heard voices recapitulating childhood experiences. One can speculate that the syndrome relates to sensory deprivation.
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