一个先天性眼外肌纤维化综合征家系的影像特征分析

目的:研究一个先天性眼外肌纤维化综合征（CFEOM）家系,发病者眼外肌及眼运动神经的影像学特征,初步探索该病发病机制,为其治疗提供理论基础。方法:对一个常染色体显性遗传病CFEOM1 家系,三代3 例患者进行高分辨率MRI扫描,随机抽取12 个正常人作为对照组,扫描方法:眼眶部行3mm 层厚、T1 加权MRI 扫描；颅内行1mm 层厚、3D FIESTA 扫描。比较两组眼外肌以及眼运动神经的变化。结果:发病者5 条眼外肌体积较正常对照组小,尤以上直肌明显,差异有统计学意义（P＜0.05）；眼运动神经（动眼神经、外展神经）的颅内段截面积较正常对照组小,差异有统计学意义（P＜0.05）。结论:CFEOM 病患者各条眼外肌较正常人萎缩,颅内眼运动神经有发育不良。提示该病可能为眼运动神经核发育不良引起。

Imaging features analysis of congenital fibrosis of extraocular muscles in a family

AIM:To study the imaging features of extraocular muscles (EOMs) and ocular motor nerves of a Chinese family with congenital fibrosis of extraocular muscles (CFEOM) by magnetic resonance imaging (MRI), and approach the etiopathogenisis of CFEOM to provide theory basis for the treatment of it.METHODS:In a autosomal dominant inheritance of CFEOM family, 2 cases of three generations were scanned by high resolution MRI, and 12 healthy people were selected as control group. Scanning method:orbital region were performed 3mm, T1-weighted imaging(T1WI); intracranial region were performed 1mm, 3D FIESTA imaging. The changes of EOMs and ocular motor nerves of two groups were compared.RESULTS:Compared to healthy people, the volumes of patients’ 5 EOMs were smaller than those of control group, especially the superior rectus (P<0.05) . And diameters of ocular motor nerves(oculomotor nerve, abducent nerve) were smaller, too (P<0.05) .CONCLUSION:The EOMs of patients with CFEOM are atrophied compared with that of healthy people, intracranial ocular motor nerves are dysplasia, which indicates that this disease can be caused by dysplasia of ocular motor nerves.