先天性眼外肌纤维化综合征患者的眼外肌及眼运动神经影像学特征  

Magnetic resonance imaging features in two Chinese family with congenital fibrosis of extraocular muscles

作　　者：吴丽[1] 周炼红[1] 刘昌盛[2] 查云飞[2] 王炯[1] 邢怡桥[1] 

机构地区：[1]武汉大学人民医院眼科,430060 [2]武汉大学人民医院放射科,430060

出　　处：《中华眼科杂志》2009年第11期971-976,共6页Chinese Journal of Ophthalmology

基　　金：基金项目：湖北省科技攻关项目（2006AA301B58）

摘　　要：目的研究先天性眼外肌纤维化（congenital fibrosis of the extraocular muscles，CFEOM）家系发病者眼外肌及眼运动神经的影像学特征，探讨先天性眼外肌纤维化的发病机制。方法收集2个CFEOM家系，家系一临床表现符合CFEOM1，家系二临床表现符合CFEOM3。对两家系共17名患者（家系－3名患者，家系二14名患者，其中男性5名，女性12名，年龄范围8—62岁，平均年龄34．4岁，34只眼）进行高分辨率MRI扫描，随机抽取18个正常成人（男女各9人，年龄范围10—59岁，平均年龄35．1岁，36只眼）作为对照。扫描方法：眼眶部行3mm层厚、T1加权MRI扫描；颅内行1mm层厚、3DFIESTA扫描；比较2组眼外肌、眼运动神经、上睑提肌和视神经的变化。对数据进行正态性检验并用t检验对数据进行统计学分析。结果MRI扫描显示发病者外直肌（LR）、内直肌（MR）、上直肌（SR）、下直肌（IR）及上斜肌（10）体积较正常对照组小，尤以上直肌明显，差异有统计学意义（LR：t=－5．535，P=0．003；MR：t=－7．187，P=0．001；SR：t=－23．749，P=0．001；IR：t=－6．907，P=0．001；IO：t=－5．057，P=0．004）；眼运动神经（动眼神经、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（t=－23．749，－11．721，P〈0．05）；视神经较细（t=2．292，P=0．025），且均向鼻上方移位；上睑提肌发育不良。结论由眼运动神经异常支配继发眼外肌组织被致密纤维组织代替所致，可能与动眼神经核和滑车神经核发育缺陷有关。CFEOM的病因为神经源性。Objective The aim of this article was to investigate the structural basis of ocularmotility and visual abnormalities in humans with congenital fibrosis of the extraocular muscles （CFEOM）. Methods 17 volunteers from 2 CFEOM pedigrees Clinical ophthalmic and motility examed and 18 normal control subjects were correlated with thin-sectioned magnetic resonance imaging （MRI） across the orbit and the brain-stem level. Results Subjects with CFEOM had severe bilateral blepharoptosis, limited supraduction, and variable ophthalmoplegia. In affected subjects, MRI demonstrated atrophy of the levator palpebrae superioris, all EOMs, and the optic nerves , and small or absent orbital motor nerves. The oculomotor nerve was most severely hypoplastic, but the abducens was also affected. Subjects with CFEOM exhibited subclinical but highly significant reduction from normal in mean optic nerve size （ P 〈 0. 05 ）. There are also some difference between the two CFEOM pedigrees . Conclustions These findings suggest that neuronal disease is primary in CFEOM, with myopathy arising secondary to abnormal innervation and the oculomotor nucleus and trochlear nucleus of the abnormalities defects.

关 键 词：动眼肌 动眼神经 展神经 纤维化 磁共振成像 系谱 

分 类 号：R686[医药卫生—骨科学]