家族性Chiari畸形临床特点及影像学分析

Clinical and Imaging Analysis of Familial Chiari Malformation

目的探讨家族性Chiari畸形的临床及影像学特点。方法回顾性分析三个Chiari畸形家族共6例患者的临床及影像学表现。其中4例患者行后颅窝减压术,另外2例患者未手术。结果第一个家族为男性双胞胎患者,均患有Chiari畸形1.5型(CM 1.5)及脊髓空洞,其中兄长合并脊柱侧弯而无脑积水,弟弟合并脑积水但无脊柱侧弯。第二个家族两位患者为母子关系,均患有Chiari畸形I型(CM I)及脊髓空洞,此外,母亲合并脊柱侧弯而无脑积水,儿子合并脑积水但无脊柱侧弯。第三个家族两位患者为非双胞胎姐妹关系,其中姐姐为CM I合并脊髓空洞,而妹妹为CM 1.5且无脊髓空洞,二者均无脊柱侧弯及脑积水。4例患者行后颅窝减压术后恢复良好。结论家族性Chiari畸形可发生于多种家族关系中,如双胞胎兄弟、母子、非双胞胎姐妹等,且临床与影像学表现可能差别很大。

Objective To analyze the clinical and imaging characteristics of familial Chiari malformations. Methods Clinical and imaging studies of 3 families with 6 Chiari malformation patients were retrospectively studied, 4 of which underwent posterior fossa decompression and the other 2 patients were not surgically treated. Results Patients of the first family were twin brothers, both with Chiari malformation type 1.5（CM 1.5） and syrinx. The elder brother had scoliosis and the younger brother had hydrocephalus. Patients of the second family are mother and son, both with Chiari malformation type I（CMI） and syrinx. Besides, the mother had scoliosis and the son had hydrocephalus. Patients of the third family are non-twin sisters, and the elder sister had CM I and syrinx, but the younger sister had CM 1.5 without syrinx. The 4 patients who underwent posterior fossa decompression had good outcome. Conclusions Familial Chiari malformations may occur in many kinds of relationships, such as twins, mother and son, and non-twin sisters, and clinical and imaging manifestations maybe various.