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家族性脊髓空洞症:首例日本病例及文献综述。

Familial syringomyelia: the first Japanese case and review of the literature.

作者信息

Yabe Ichiro, Kikuchi Seiji, Tashiro Kunio

机构信息

Department of Neurology, Hokkaido University Graduate School of Medicine, N15 W7, Kita-ku, Sapporo 060-8638, Japan.

出版信息

Clin Neurol Neurosurg. 2002 Dec;105(1):69-71. doi: 10.1016/s0303-8467(02)00091-4.

Abstract

We reported on syringomyelia in a mother and her son. The mother was 74-year-old, who developed gait difficulty at the age of 54. The son, 47-year-old, developed the same symptoms at the age of 35. In the both cases, MRI revealed syringomyelia with Chiari malformation. Twenty-one families with syringomyelia have been reported. The existence of these families indicates that genetic factors may play in role to the pathogenesis of this disorder.

摘要

我们报道了一位母亲和她儿子患脊髓空洞症的病例。母亲74岁,54岁时出现步态困难。儿子47岁,35岁时出现相同症状。在这两个病例中,磁共振成像(MRI)显示脊髓空洞症合并小脑扁桃体下疝畸形。已有21个脊髓空洞症家族被报道。这些家族的存在表明遗传因素可能在这种疾病的发病机制中起作用。

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