伴有皮质下梗死及白质脑病的常染色体隐性遗传性脑动脉病

1985年福武敏夫报告一个家族性青年起病,临床以秃头、腰痛、白质脑病为特征的新的综合征(伴有皮质下梗死及白质脑病的常染色体隐性遗传性脑动脉病,CARASIL)。CARASIL,具有与Binswanger病十分相似的血管性白质脑病的临床影像及病理学改变。但CARASIL有几点有别于典型的Binswanger病:①家族史;②青少年起病;③缺乏脑血管病的危险因子(尤其是高血压);④弥漫性秃头;⑤骨骼系统疾病。MRI T2加权及FLARI序列可见皮质深部白质高信号和基底节、丘脑腔隙梗死灶。CARASIL病因迄今不明,但文献资料已经证明不仅归属动脉硬化性脑病,而且为遗传性脑病的小血管病。

Cerebral Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, CARASIL

In 1985 Fukutake reported a new clinical syndrome of familial juvenile leukoencephalopathy with alopecia and lumbago.This disease has clinical,radiological and pathological features of vascular leukoencephalopathy similar to those of Binswanger＇s disease,but there were some aspects different from the classic form of Binswanger＇ s disease.They are as follows z family history.②juvenile onset.③absence of vascular risk factor,especially hypertension.④diffuse baldness.⑤skeletal system disorders.MRI T2WI and FLARWI revealed areas of high signal intensity in the subcortical deep white matter and lacunar infarcts in the basal ganglia and thalamus.The cause and pathogenesis of the illness are still unknown.Literature analysis has been proved that this diseases is arteriosclerotic encephalopathy and genetic small vessel disease of brain.