中国汉族家族性脑海绵状血管瘤：1家系谱回顾分析

目的　探讨汉族人家族性脑海绵状血管瘤的临床、影像学及病理特点。方法 对1家族性脑海绵状血管瘤家系进行临床、影像学和病理分析，并绘制家系遗传图谱。结果 该家系16人共4人发病，符合常染色体显性不完全外显遗传，临床以头痛、出血、局灶性神经功能障碍为主要表现，头颅MRITlWI多呈混杂信号，T2WI多为不均匀高信号为主的混杂信号，内部可见夹杂低信号，边缘为低信号环。镜下脑海绵状血管瘤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，病灶内部或周围含有含铁血黄素。结论 家族性脑海绵状血管瘤是常染色体不完全显性遗传病。头颅MRIT2加权像病灶周围含铁血黄素沉积的“铁环征”，是脑海绵状血管瘤的特征性MRI表现。其病理结构是其易反复少量出血及MRI影像表现复杂多样的主要原因。

Familial cerebral cavernous malformation Retrospective analysis of one Chinese pedigree

Cerebral cavernous malformation (CCM) is a frequently occurring disease in Latin American populations, but little is known about the prevalence in China. This study enrolled one Chinese family with CCM, comprising 16 members; four were diagnosed with CCM which corresponded with autosomal incomplete dominance inheritance. The main clinical manifestations included headache, focal neural dysfunction, and cerebral hemorrhage. The lesions were a mixture of hyperintensity and hypointensity signals on T1WI and T2WI, with a black hypointensity ring on T2WI. CCM cranial magnetic resonance imaging T2WI revealed an iron ring as a result of hemosiderin deposition. Pathological findings of CCM revealed tightly packed and variably thickened vascular channels lacking smooth muscle or elastic tissue. Intralesional hyalinosis, calcification, or bleeding of different phases and perilesional glial hyperplasia were observed, as well as hemosiderin deposition within or around the lesions. These features of this family were consistent with specific genetic, imaging and pathological features of familial CCM. Pathological characteristics reveal repeated hemorrhage, as well as intralesional and perilesional hemosiderin deposition.