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目的报道1例以急性可逆性意识模糊或浅昏迷为主要临床表现的伴皮质下梗死和白质脑病的常染色显性遗传性脑动脉病(Cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy,CADASIL),探讨其临床特点和可能的发病机制。方法对1例临床表现为反复发作的发热、头痛、呕吐、意识模糊或浅昏迷的患者,进行临床、影像学、皮肤活检检查。结果患者临床表现为反复发作的发热、头痛、呕吐、意识模糊或浅昏迷,MRI见广泛的脑白质病变,皮肤活检光镜下见小动脉含糖原颗粒,管腔狭窄,电镜下见血管内皮下黑色嗜锇颗粒沉积。结论CADASIL可以表现为急性可逆性意识障碍或浅昏迷,当临床上出现用其它原因不能解释的急性可逆性意识障碍时,需考虑CADASIL的可能。
Objective To investigate the clinical significance of cerebral autonomic dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) in 1 case of acute reversible or confused unconsciousness and subcortical infarction and leukoencephalopathy Its clinical features and possible pathogenesis. Methods One patient with clinical manifestations of recurrent fever, headache, vomiting, confusion or coma was examined with clinical, radiological and skin biopsies. Results The clinical manifestations of recurrent fever, headache, vomiting, confusion or light coma, MRI see a wide range of white matter lesions, skin biopsy light see small arteries containing glycogen particles, stenosis, under the microscope endovascular Subcutaneous black osmiophilic particles deposited. Conclusion CADASIL can be manifested as acute reversible disturbance of consciousness or superficial coma. When clinical reversible acute disturbance of consciousness can not be explained by other reasons, the possibility of CADASIL should be considered.