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From the Third Department of Internal Medicine (Drs. Kuriyama, Osame, and Igata), Kagoshima University School of Medicine, Kagoshima, Department of Neurology (Drs. Umezaki and Fukuda), Kyushu Welfare Pension Hospital, Kitakyushu, Department of Pathological Biochemistry (Dr. Koike), Atomic Disease Institute, Nagasaki University School of Medicine, Nagasaki, and the Department of Neuropathology (Dr. Tateishi), Neurological Institute, Kyushu University School of Medicine, Fukuoka, Japan.
We studied a patient with somatic growth failure with easy fatigability, myopathy with mitochondrial abnormality, increased lactate and pyruvate in blood and CSF, mental retardation, seizure, myoclonus, deafness, cerebellar ataxia, and blindness with macular degeneration and optic atrophy. Pathologic findings included multiple brain infarctions and massive calcification in the basal ganglia. Biochemical studies of isolated mitochondria revealed decreased oxygen consumption in skeletal muscle, diaphragm, and brain, suggesting an abnormality in the respiratory chain.
Address correspondence and reprint requests to Dr. Kuriyama, Third Department of Internal Medicine, Kagoshima University School of Medicine, 1208-1 Usuki-cho, Kagoshima 890, Japan.
Accepted for publication April 26, 1983.
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