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家族性蛛网膜囊肿

Familial arachnoid cysts.

作者信息

Arriola Gema, de Castro Pedro, Verdú Alfonso

机构信息

Pediatric Neurology Section, Hospital General Universitario Gregorio Marañón, Madrid, Spain.

出版信息

Pediatr Neurol. 2005 Aug;33(2):146-8. doi: 10.1016/j.pediatrneurol.2005.02.008.

DOI:10.1016/j.pediatrneurol.2005.02.008
PMID:16087064
Abstract

Arachnoid cysts are a relatively common incidental finding on neuroimaging studies of the brain. Although most cases are sporadic, there have been some reports of arachnoid cysts in several members of the same family. This report describes two additional families with three members affected in each one. Both families had members with arachnoid cysts in two consecutive generations. In one of the families, arachnoid cysts were associated with a deletion in the long arm of chromosome 16, an association not described previously. These descriptions suggest that in some cases arachnoid cysts may have a genetic basis.

摘要

蛛网膜囊肿是脑部神经影像学检查中相对常见的偶然发现。虽然大多数病例是散发性的,但已有一些关于同一家族中多名成员患有蛛网膜囊肿的报道。本报告描述了另外两个家族,每个家族有三名成员患病。两个家族均有两代成员患有蛛网膜囊肿。在其中一个家族中,蛛网膜囊肿与16号染色体长臂缺失有关,此前未描述过这种关联。这些描述表明,在某些情况下蛛网膜囊肿可能有遗传基础。

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Surgical indications in pediatric arachnoid cysts.小儿蛛网膜囊肿的手术指征
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Familial and syndromic forms of arachnoid cyst implicate genetic factors in disease pathogenesis.蛛网膜囊肿的家族性和综合征形式表明遗传因素在疾病发病机制中起作用。
Cereb Cortex. 2023 Mar 10;33(6):3012-3025. doi: 10.1093/cercor/bhac257.
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