脑海绵状血管瘤一家系临床、病理及影像学特征

Cerebral cavernous angiomas:clinical,pathophysiological and imaging features in one Chinese family

目的探讨汉族人家族性脑海绵状血管瘤的临床、病理及影像学特征。方法对发现的1个家族性脑海绵状血管瘤家系进行临床及影像学检查,绘制疾病家系图谱,并对有手术适应证的患者行血管瘤切除术,观察其组织病理和超微结构特点。结果该家族成员18人中9人患病,外显率50%,且均为多发性血管瘤,符合常染色体显性不完全外显遗传特征。其中4例伴有皮肤血管瘤的患者均合并有中枢神经系统血管瘤,颅脑 MRI 病灶中心呈特异的混杂信号,周边围有一圈由含铁血黄素构成的低信号环,其中梯度回波序列成像可发现其他序列无法发现的微小血管瘤。血管瘤是由一团大小不等且伴管腔扩张的异常血管构成,异常血管间无神经纤维组织。超微结构下可见大小不等的多个血窦样扩张结构,窦腔内有大量红细胞,窦壁为一层菲薄的内皮细胞,部分内皮细胞间紧密连接消失、内皮细胞连续性中断,基膜增厚、疏松、部分分层。结论家族性脑海绵状血管瘤为一种常染色体显性不完全外显的遗传疾病,血管瘤由一团大小不等且伴管腔扩张的异常血管构成,窦壁为一层菲薄的内皮细胞,异常血管间无神经纤维组织。病灶具有多发性特点,皮肤海绵状血管瘤是有家族性脑海绵状血管瘤家族史的患者该病诊断的重要依据。3.0 T MRI 的梯度回波序列成像可以成为诊断家族性脑海绵状血管瘤的"金标准"。

Objective To investigate clinical symptoms, pathophysiology and brain imaging features of Chinese familial cerebral cavernous angiomas. Methods Head MRI examination, clinical and pathophysiologieal examination were performed in a Chinese family with one proband of cerebral cavernous malformation. The disease atlas of the family was drawn. The patients indicative of a surgery underwent resection of hemangioma whose pathophysiology and mierostructure were observed. Results Nine familial cerebral cavernous angiomas patients were found to have multiple intracranial lesion in the 18 family members, the penetranee being 50%, conforming to the feature of autosomal incomplete dominance inheritance. Four patients with skin cavernous hemangioma had familial cerebral cavernous angiomas. MRI was the most sensitive modality for the diagnosis of cavernous angioma. With T2-Weighted sequences, the lesion was typically characterized by an area of mixed signal intensity, with a central reticulated core and a peripheral rim of decreased signal intensity related to deposition of hemosiderin. Gradient-echo（GRE） MRI could find microcavernous hemangiomas that would not be found in other sequences. Cavernous angiomas were typically discrete multilobulated berrylike lesions that contained hemorrhage in various stages of evolution. Histological homogeneity and overlap with other vascular malformations such as capillary telangietasia was common. Cavernous angiomas were composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue. Hemorrhagic residua were common. Clots at different stages of evolution within the lesion were seen. The basic membranes of sinus became thick and soft. Parts of it were layered. Conclusions Familial cerebral cavernous angiomas is an autosomal incomplete dominance inheritance disease. Cavernous angiomas are composed of endothelial-linked sinusoidal spaces not separated by significant amounts of neural tissue. There are more than one focus in every patients and the skin cavernous angiomas is the foundation of diagnosing familial cerebral cavernous angiomas. Gradient-echo imagine sequence MRI（ 3.0 T） could be the ＂golden standard ＂.