常染色体隐性遗传性脑动脉病伴皮质下梗死和白质脑病的临床与影像学特点(附1家系报告)

Clinical and imaging features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy(report of one family)

目的研究常染色体隐性遗传性脑动脉病伴皮质下梗死和白质脑病(CARASIL)的临床与影像学特点。方法对1例中国蒙古族CARASIL患者的临床资料进行回顾性分析,并对其家系成员进行调查。结果先证者父母为近亲表兄妹结婚,其兄是CARASIL患者,2例CARASIL患者发病年龄为25岁、23岁,临床表现为脑卒中样发作,进展性运动障碍和痴呆,疒间性发作,均有秃发、眼底动脉硬化等;无常见脑卒中危险因素。头颅MRI示双侧大脑广泛白质病变,伴多发梗死灶,可见双颞极OSullivan征。颈椎MRI示多处椎间盘突出及显著退行性变。结论CARASIL的临床特点为青年发病的脑卒中、脑动脉硬化症,伴脱发、颈椎、腰椎病。MRI显示多发性脑梗死、脑白质病变和椎间盘退行性变。

Objective To investigate the clinical and imaging features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy （CARASIL）. Methods Clinical data of a Chinese Mongolian patient with CARASIL were analyzed retrospectively and pedigree investigation was carried out in the family. Results The proband＇s parents were cousin and her brother was a patient with CARASIL too. The patients had onset at 25 and 23 years old, respectively. Clinical manifestations included cerebral stroke, progressive motor and mental deterioration, seizures, alopecia, and ocular fundus arteriosclerosis. No common risk factors of cerebral stroke were found in the family. Brain MRI showed bilateral diffuse cerebral white matter lesion with multiple infarcts and O＇Sullivan sign. Cervical vertebral MRI showed multiple protrusion of intervertebral disc and significant retrogression. Conclusions CARASIL is clinically characterized by young-age-onset cerebral stroke, cerebral arteriosclerosis, alopecia, cervical and lumbar spondylopathy. MRI shows multiple cerebral infarcts, leukoencephalopathy and retrogression of intervertebral disc.