A case report of abetalipoproteinemia (Bassen-Kornzweig syndrome) The first case in Japan.

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  • AKAMATSU Koichi
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • SAKAUE Hiroshi
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • TADA Koji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • MIZUKAMI Yuji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • YAMAGUCHI Shuji
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • TANAKA Akira
    The Third Department of Internal Medicine, Ehime University School of Medicine
  • OHTA Yasuyuki
    The Third Department of Internal Medicine, Ehime University School of Medicine

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  • Case Report of Abetalipoproteinemia Bas
  • The First Case in Japan

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Abstract

The clinical and pathophysiological features of a case of abetalipoproteinemia in a 34-year-old patient are described. This patient is the first case reported in Japan. The patient was diagnosed as abetalipoproteinemia by confirming the Apo-B deficiency in the patient's serum and the slightly high cholesterol level in his mother's and borderline normal level in his father's. The patient had remarkably low lipid levels, acanthocytosis, and lipid malabsorption. Anunusual feature of this case was that the patient had no neuromuscular or ocular manifestations. This was possibly related to his normal plasma vitamin A and E levels.

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