Extensive brain calcifications leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy
Extensive brain calcifications leukodystrophy, and formation of parenchymal cysts: A new progressive disorder due to diffuse cerebral microangiopathy
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DOI：
10.1212/wnl.46.5.1297
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发表时间：
1996-05-01
期刊：
影响因子：
9.9
通讯作者：
Landrieu, P
中科院分区：
文献类型：
--
作者：
Labrune, P;Lacroix, C;Landrieu, P
一种新的脑部疾病，描述在三个无关的儿童，具有可识别的临床，放射学和神经病理学表现。起病于婴儿早期至青春期，表现为认知能力减慢，罕见惊厥性发作，并伴有锥体外系、小脑和锥体束体征。CT显示基底和小脑灰质核以及中央白色物质中的进行性钙化。MRI在T-2加权序列上显示弥漫性白色信号。一个特殊的特点是在小脑和幕上室的实质囊肿的发展，导致压迫并发症和手术考虑。手术切除的囊周标本的神经病理学检查显示微血管的血管瘤样重排，以及其他细胞成分的退行性继发性变化。解剖学发现和病程都提示一种体质性弥漫性脑微血管病，导致微囊，然后是大囊，实质变性。
A new cerebral disorder, described in three unrelated children, has recognizable clinical, radiologic, and neuropathologic findings. The onset occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal, cerebellar, and pyramidal signs. CT shows progressive calcifications in the basal and cerebellar gray nuclei and the central white matter. MRI reveals diffuse abnormal signals of the white matter on T-2-weighted sequences. A special feature is the development of parenchymal cysts in the cerebellum and the supratentorial compartment, leading to compressive complications and surgical considerations. Neuropathologic examination of surgically removed pericystic samples reveals angiomatous-like rearrangements of the microvessels, together with degenerative secondary changes of other cellular elements. Both the anatomic findings and the course of the disease suggest a constitutional, diffuse cerebral microangiopathy resulting in microcystic, then macrocystic, parenchymal degeneration.