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[家族性海绵状血管瘤。三代病例报告]

[Familial cavernous angioma. Report in 3 generations].

作者信息

Fobe J L, de Lima J B, de Buone M L, Correa Neto J

机构信息

Serviço de Neurocirurgia, AACD, São Paulo SP, Brasil.

出版信息

Arq Neuropsiquiatr. 1996 Dec;54(4):655-60. doi: 10.1590/s0004-282x1996000400016.

Abstract

Cavernous angioma is a vascular malformation that affect 0.5 to 0.7% of the population making up 8 to 15% of cerebrovascular malformations. It is the second vascular malformation in frequency of the central nervous system, supplanted only by classic arteriovenous malformation. It may occur in two forms: a sporadic form characterized by isolated lesions: and a familial form characterized by multiple lesions with an autosomal dominant mode of inheritance with high penetrance and varied expressivity in the proportion M1:F1. Symptoms related to cavernous angioma are seizures, headache or progressive neurologic deficit. The authors present a Chinese family with familial cavernous angioma. Manifestations of the disease occurred in three generations affecting only females. Clinical, neuroimage, pathological, natural course and genetical aspects of the disease are discussed.

摘要

海绵状血管瘤是一种血管畸形,影响0.5%至0.7%的人群,占脑血管畸形的8%至15%。它是中枢神经系统中第二常见的血管畸形,仅次于典型的动静脉畸形。它可能以两种形式出现:一种是散发性形式,其特征为孤立性病变;另一种是家族性形式,其特征为多个病变,呈常染色体显性遗传模式,具有高外显率,在男女比例(M1:F1)中表现各异。与海绵状血管瘤相关的症状有癫痫发作、头痛或进行性神经功能缺损。作者报道了一个患有家族性海绵状血管瘤的中国家庭。该疾病的表现出现在三代人中,且仅影响女性。本文讨论了该疾病的临床、神经影像学、病理学、自然病程和遗传学方面。

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