题名

C型尼曼•匹克氏病-病例報告

并列篇名

Type C Niemann-Pick Disease-A Case Report

DOI

10.30048/ACTASOS.199112.0167

作者

陳惠貞(Huey-Jan Chen);高玲玉(Ling-Yuh Kao)

关键词

Niemann-Pick disease ; Supranuclear vertical gaze paresis ; Sea-blue histiocyte ; large foamy cell

期刊名称

台灣眼科醫學會會刊

卷期/出版年月

30卷4期(1991 / 12 / 04)

页次

229 - 234

内容语文

繁體中文

中文摘要

本文報告一例C型尼曼•匹克氏病。臨床表現包括核上性垂直運動麻痺(Supranuclear vertical gaze paresis)漸進性運動失調(Progressing ataxia)和心智退化(Mental deterioration),骨髓抹片可見海藍組織球(Sea-blue histiocyte)及大泡沫細胞(Large foamy cell)。

英文摘要

A case of type C Niemann-Pick disease was reported. The 10 year-old male patient suffer from mental deterioration for 4 years, progressive ataxia arid loss of vertical saccade for 3 years. The bone marrow aspiration biopsy revealed: 1. Sea-blue histiocyte. 2. foamy histiocyte. According to the clinical manifestation and bone marrow aspiration, we highly suspect that the patient is a case of ”type C Niemann-Pick disease.

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