The familial syndrome of proliferative vasculopathy and hydranencephaly‐hydrocephaly: immunocytochemicaI and uItrastructuraI evidence for endothelial proliferation
The familial syndrome of proliferative vasculopathy and hydranencephaly‐hydrocephaly: immunocytochemicaI and uItrastructuraI evidence for endothelial proliferation
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增殖性血管病和脑积水-脑积水的家族综合征：内皮增殖的免疫细胞化学和超微结构证据
DOI：
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发表时间：
1995
影响因子：
5
通讯作者：
P. Thurley
中科院分区：
文献类型：
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作者：
B. N. Harding;P. Ramani;P. Thurley
这是关于福勒型无脑畸形或增殖性血管病变和无脑脑积水（PVHH）的第四份报告，并且是欧洲的第一例病例，也是亚洲家庭报告的第一例病例。一个17周的胎儿表现出严重的关节挛缩、翼状胬肉和肌肉发育不全。脑室的大量囊性扩张伴薄的无组织的苍白质，与整个中枢神经系统的钙化和特征性的球状胶质血管病有关。先前妊娠的无脑畸形在妊娠13周时被超声证实。肾小球血管病变是这种疾病所特有的，它有不明确的血管通道，突出的网状蛋白网络和包涵体承载细胞，我们的免疫细胞学和超微结构研究表明这些包涵体承载细胞是内皮细胞。病因尚不确定：以前的假设包括先天性感染或原发性神经外胚层衰竭。我们目前的临床和形态学结果表明，肾小球血管病变在妊娠早期血管侵入大脑地幔时起主要作用。以往和现在的病例数据支持常染色体隐性遗传，与散发性、脑碎裂性、无脑性PVHH相比，PVHH可以通过显微镜检查很容易地与之区分。
This is the fourth report of Fowler‐type hydranencephaly, or proliferative vasculopathy and hydranencephaly‐hydrocephaly (PVHH), and is both the first case in Europe and the first case reported in an Asian family. A 17‐week fetus showed severe arthrogryposis, pterygia and muscular hypoplasia. Massive cystic dilatation of the cerebral ventricles with thin disorganized pallium was associated with calcifications and characteristic glom‐eruloid vasculopathy throughout the CNS. Hydranencephaly in a previous pregnancy was demonstrated ultrasonographically at 13 weeks gestation. The glomeruloid vasculopathy, unique to this disorder, has ill‐defined vascular channels, prominent reticulin network and inclusion‐bearing cells which our immunocytological and ultrastructural studies suggest are endothelial cells. Aetiopathogenesis remains uncertain: previous hypotheses include congenital infection or primary neuro‐ectodermal failure. Our present clinical and morphological findings suggest a primary role for the glomeruloid vasculopathy at the time of vascular invasion of the cerebral mantle during the first trimester. Previous and present case data support autosomal recessive inheritance, in contradistinction to sporadic, encephaloclastic, hydranencephaly from which PVHH can be readily differentiated by microscopic examination.
影响因子：
8
作者：
A. C. Moessinger
通讯作者：
A. C. Moessinger