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NEUROLOGY 1987;37:1867
© 1987 American Academy of Neurology

Heterogeneous phenotypes of mitochondrial encephalomyopathy in a single kindred

T. Ishitsu, MD, T. Miike, MD, A. Kitano, MD, Y. Haraguchi, MD, Y. Ohtani, MD, I. Matsuda, MD, A. Shimoji, MD and H. Kimura, MD

Departments of Pediatrics (Drs. Ishitsu, Kitano, Haraguchi, and Matsuda), Child Development (Dn. Miike and Ohtani), and Neuropsychiatry (Dr. Shimoji), Kumamoto University Medical School, and the Department of Internal Medicine (Dr. Kimura), Kumamoto Central Hospital, Kumamoto, Japan.

Five patients with mitochondrial disorders in a single family showed marked heterogeneity of clinical signs and symptoms. Two patients had the syndrome of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes; one had blepharoptosis, seizures, and diabetes insipidus; and two had a nonspecific encephalomyopathic disorder. This family supports the concept of a "mitochondrial cytopathy."

Address correspondence and reprint requests to Dr. Miike, Department of Child Development, Kumamoto University Medical School, 1–1–1 Honjo, Kumamoto 860, Japan.

Received June 17, 1986. Accepted for publication in final form February 13, 1987.




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