伴脑出血的CADASIL(附1例报道)

目的报道1例以脑出血引发的癫痫为主要临床表现的伴皮质下梗死和白质脑病的长染色显性遗传性脑动脉病(Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopa-thy,CADASIL),探讨其可能的发病机制。方法对1例CADASIL患者进行临床表现、影像学及皮肤活检等方面检查。结果患者临床表现为癫痫、偏头痛、记忆力下降及情感障碍,MRI平扫见皮质下多发腔隙性脑梗死及脑白质病变,MRI梯度回波序列见多发微出血灶及右颞顶交界处大出血灶,皮肤活检电镜下见血管内皮下黑色嗜锇样颗粒沉积。结论对于表现为脑出血的患者,也应考虑CADASIL。

Intracerebral haemorrhage in CADASIL(one case report)

Objective To report a case of a CADASIL patient with the main clinical manifestation of epilepsy caused by cerebral hemorrhage,and to investigate the possible pathogenesis.Methods A systematic study of one case on the clinical manifestations,neuroimaging characteristics and skin biopsy was performed.Results The patient＇s clinical manifestations was epilepsy,migraine,poor memory,mood disturbances,MIR scan showed subcortical multi-lacunar infarction and leukoencephalopathy,GRE sequences showed multiple microbleeds and cerebral hemorrhage of the right temporal-parietal junction,and skin biopsy indicated deposits of granular osmiophilic material（GOM） in the subendothelial space.Conclusions CADASIL should be considered in patients with cerebral haemorrhage.