遗传性中枢神经系统多发性海绵状血管瘤4例临床特点

Familial Multiple Cavernous Malformations of the Central Nervous System

目的回顾性分析一家系4例中枢神经系统多发性海绵状血管瘤(cavernous malformations,CMs)的临床特点,以提高对此病的认识。方法对一家系4例中枢神经系统多发性CMs患者进行详细的病史询问、查体、颅脑影像学、脑电图检查。结果此家系为常染色体不完全显性遗传可能,呈家族性发病、神经系统多个部位受损、磁共振成像(magnetic resonance imaging,MRI)上表现为"铁环"征是该病的重要特点,磁敏感成像(susceptibility-weighted imaging,SWI)序列提示结果更为敏感。结论本家族性中枢神经系统CMs病灶多发,MRI是诊断此病的重要手段。

Objective By retrospective analysis clinical manifestations of four cases with familial central nervous system multiple cavernous malformations （CMs）, to promote the understanding and diagnostic acuity of the disease. Methods Four patients in a pedigree were asked to conduct a detailed medical history, medical examinations, magnetic resonance imaging （MRI） and electroencephalogram. Results The family is incomplete in autosomal dominant inheritance. There were Multiple CMs in the central nervous system. MRI on the performance of the ＂iron ring＂ sign is an important feature of the disease; Susceptibility-weighted imaging is more sensitive imaging sequence. Conclusion Multiple CMs are in the all patients of the family. MRI examination is an important diagnostic method.