家族性脑海绵状血管瘤1个汉族家系报道

Familial cerebral cavernous malformations--a report of a Chinese Han family

目的探讨汉族人家族性脑海绵状血管瘤（familial cerebral cavernous malformation，FCCM）的遗传学、临床、影像学和病理学特点。方法对1个汉族家系FCCM进行临床、影像学和病理学分析，并绘制家系遗传图谱。结果该家系16人中共有4人发病，符合常染色体显性不完全外显遗传，以头痛、出血和局灶性神经功能障碍为主要临床表现，MRIT1加权成像多呈混杂信号，T2加权成像多为不均匀高信号为主的混杂信号，内部夹杂低信号，边缘为低信号环。病理学检查（HE染色）显示，CCM由缺乏肌层和弹力纤维的大小不等的海绵状血管窦组成，病灶内可见玻璃样变、钙化或不同阶段的出血，病灶周围可有胶质增生带，病灶内部或周围存在含铁血黄素。结论FCCM是一种常染色体不完全显性遗传病。MRI T2加权成像可见病灶周围的含铁血黄素环。CCM的病理学改变是其易反复少量出血和MRI表现复杂多样的主要原因。

Objective To investigate the genetic, clinical, imaging and pathological features of Chinese Han familial cerebral cavernous malformations （FCCM）. Methods The clinical, imaging and pathological examination of FCCM in a Chinese Han family were analyzed and the family genetic map was drawn. Results Four of the 16 members in the family had FCCM, and they were consistent with the autosomal dominant inheritance with incomplete penetrance. Their main clinical manifestations were headache, cerebral hemorrhage, and focal neurological dysfunction. MRI mainly showed mixed signal intensity on T1 -weighted imaging, and it mainly showed inhomogeneous high signal with mixed signal intensity on Tz-weighted imaging, and the mixed low signals were observed inside with a black hypointensity ring on the rim. Pathological examination （HE staining） showed that CCM was composed of cavernous sinus of different sizes lacking muscularis and elastic fibers. Hyalinization, calcification or hemorrhage at different stages was observed in the lesions. There was a zone of gliosis around the lesions, containing hemosiderin within or around the lesions. Conclusions FCCM is an autosomal incomplete dominance inheritance disease. A hemosiderin ring around the lesions could be observed on MRI T2-weighted imaging. The pathological changes of CCM were the main reason for repeated minor hemorrhage and multiplicity of MRI lesions.