A Case Report of Abetalipoproteinemia (Bassen-Kornzweig syndrome) The First Case in Japan

Koichi AKAMATSU; Hiroshi SAKAUE; Koji TADA; Yuji MIZUKAMI; Shuji YAMAGUCHI; Akira TANAKA; Yasuyuki OHTA

doi:10.2169/internalmedicine1962.22.231

A Case Report of Abetalipoproteinemia (Bassen-Kornzweig syndrome)

The First Case in Japan

Koichi AKAMATSU, Hiroshi SAKAUE, Koji TADA, Yuji MIZUKAMI, Shuji YAMAGUCHI, Akira TANAKA, Yasuyuki OHTA

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Keywords: Abetalipoproteinemia, Bassen-Kornzweig syndrome, Acanthocytosis, Fat malabsorption, Highly vacuolated enterocyte, vitamin A, vitamin E

JOURNAL FREE ACCESS

1983 Volume 22 Issue 3 Pages 231-236

DOI https://doi.org/10.2169/internalmedicine1962.22.231

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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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