The Kearns-Shy Syndrome

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  • KINOSHITA Masao
    The Fourth Department of Internal Medicine, School of Medicine Toho University
  • SATOYOSHI Eijiro
    The Fourth Department of Internal Medicine, School of Medicine Toho University
  • SUZUKI Yasuto
    The Fourth Department of Internal Medicine, School of Medicine Toho University
  • WAKATA Nobuo
    The Fourth Department of Internal Medicine, School of Medicine Toho University
  • SUNOHARA Nobuhiko
    The Fourth Department of Internal Medicine, School of Medicine Toho University

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タイトル別名
  • Report of two cases

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Two cases with chronic external ophthalmoplegia were presented. In addition to ptosis and extraocular palsy, they had optic atrophy, pigmentary degeneration of retinae, loss of hearing, dysphonia, dysphagia, facial weakness, abnormal CSF protein, myopathy of limbs, myasthenic phenomenon, peipheral neuropathy, cerebellar ataxia, decreased intelligence, cardiac abnormality, or abnormal stature. The mitochondrial abnormality and accumulation of lipid droplets were demonstrated by electron microscopy in the biopsy of muscles of both cases. For the time being, the "Kearns-Shy syndrome" was considered to be the most proper term to this disorder.

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