Brodsky M C, Kincannon J M, Nelson-Adesokan P, Brown H H
University of Arkansas for Medical Sciences, Little Rock, USA.
Ophthalmology. 1997 Mar;104(3):497-503. doi: 10.1016/s0161-6420(97)30285-1.
The authors document the association of peripapillary staphyloma and an atypical variant of hemimegalencephaly with the linear nevus sebaceous syndrome.
Linear nevus sebaceous syndrome is an uncommon neurocutaneous disorder that has a propensity to involve the eyes.
Clinical, histopathologic, and neuroimaging findings are examined in a child with linear nevus sebaceous syndrome.
In addition to bilateral peripapillary staphylomas, ophthalmologic abnormalities included a corneal dermoid, a complex conjunctival choristoma, macular hypoplasia, and optic nerve hypoplasia with contralateral optic atrophy. Magnetic resonance imaging disclosed a rare form of hemimegalencephaly characterized by hypoplasia of an optic radiation within the enlarged, dysgenetic cerebral hemisphere.
The spectrum of oculocerebral dysgenesis in the linear nevus sebaceous syndrome can be expanded to include peripapillary staphyloma and atypical hemimegalencephaly with hypoplasia of an optic radiation.
作者记录了视乳头周围葡萄肿和半侧巨脑症的一种非典型变体与皮脂腺痣综合征的关联。
皮脂腺痣综合征是一种罕见的神经皮肤疾病，易累及眼部。
对一名患有皮脂腺痣综合征的儿童进行临床、组织病理学和神经影像学检查。
除双侧视乳头周围葡萄肿外，眼科异常还包括角膜皮样瘤、复杂性结膜迷芽瘤、黄斑发育不全以及视神经发育不全伴对侧视神经萎缩。磁共振成像显示了一种罕见的半侧巨脑症形式，其特征为在扩大的、发育异常的大脑半球内视辐射发育不全。
皮脂腺痣综合征的眼脑发育异常谱可扩展至包括视乳头周围葡萄肿和伴有视辐射发育不全的非典型半侧巨脑症。
