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脑-颅-皮肤脂肪瘤病

Encephalocraniocutaneous lipomatosis.

作者信息

Fishman M A

出版信息

J Child Neurol. 1987 Jul;2(3):186-93. doi: 10.1177/088307388700200303.

Abstract

Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The cutaneous lesions are confined to the head. The central nervous system lesions consist in part of cerebral hemiatrophy, porencephaly, and defective opercularization of the insula. The intracranial lesions and clinical symptomatology are progressive, and appear, in part, to have a vascular pathogenesis. This suggests that a primary defect in the formation of tissues derived from embryonic mesenchyme may be responsible for the syndrome and that tissues derived from ectoderm may be secondarily affected.

摘要

脑颅皮肤脂肪瘤病是一种独特的临床综合征,其特征为单侧脑畸形以及同侧头皮、面部和眼部病变。皮肤病变局限于头部。中枢神经系统病变部分包括脑半球萎缩、脑穿通畸形以及岛叶的 opercularization 缺陷。颅内病变和临床症状呈进行性发展,部分似乎具有血管发病机制。这表明源自胚胎间充质的组织形成中的原发性缺陷可能是该综合征的病因,而源自外胚层的组织可能继发受到影响。 (注:文中“opercularization”可能是专业术语,此处直接保留英文,因无准确对应中文术语)

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