基于MRI的眼运动神经和眼外肌影像学改变:KIF21A基因突变的先天性眼外肌纤维化  

MRI demonstrates abnormalities of motor nerves and extraocular muscles in congenital fibrosis syndrome due to mutations in KIF21A

作　　者：焦永红[1] 吴绍芹[2] 满凤媛[3] 贾红艳[1] 刘刚[1] 林楠[1] 

机构地区：[1]首都医科大学附属北京同仁医院北京同仁眼科中心北京市眼科学与视觉科学重点实验室,中国北京市100730 [2]首都医科大学附属北京安贞医院医学影像科,中国北京市100029 [3]首都医科大学附属北京同仁医院北京同仁影像中心,中国北京市100730

出　　处：《国际眼科杂志》2014年第8期1426-1429,共4页International Eye Science

基　　金：国家自然科学基金(No.81070762)~~

摘　　要：目的:利用高分辨MRI观察KIF21A基因突变的先天性眼外肌纤维化Ⅰ型的眼运动神经和眼外肌的影像特征。方法:对11例KIF21A基因R954W突变的先天性眼外肌纤维化综合征Ⅰ型患者行MRI扫描。眼外肌和眼运动神经的眶内段采用二元-相位线圈,2-mm层厚T1加权像扫描;眼运动神经的脑池段采用头线圈,0.6-mm层厚3D-FIESTA序列扫描。结果:先天性眼外肌纤维化Ⅰ型患者的动眼神经、外展神经及滑车神经的眶内段和脑池段都表现出不同程度的发育不良,其中8例的眶内段见可疑由动眼神经向外直肌发出的异常神经支配。全部患者双侧六条眼外肌不同程度的萎缩,以上直肌和提上睑肌最为严重。结论:高分辨MRI显示KIF21A基因突变的先天性眼外肌纤维化Ⅰ型患者眼运动神经和眼外肌及‘Pulley'结构发育不良,提示先天性眼外肌纤维化的原发病变是运动神经发育缺陷。AIM：To observe the structural basis of ocular motility abnorm alities in patients w ith congenital fibrosis of the extraocular m uscles type Ⅰ（ CFEOM Ⅰ） due to m issense m utations in the developm ental kinesin KIF21 A using high- resolution m agnetic resonance im aging（ M RI）. METHODS： Totally 11 affected individuals reported KIF21 A mutations were correlated with MRI studies demonstrating extraocular muscles（ EOMs） size,location,contractility, and innervation. EOMs and the motor nerve in the orbits were imaged with T1 weighted in a triplanar scan using a dual- phased coils with 2. 0mm thick. Motor nerves were imaged at the brainstem usinghead coils and 3D- FIESTA with 0. 6- mm thick.RESULTS： Patients with CFEOM Ⅰ exhibited different degrees of hypoplasia of oculomotor nerve,the abducens nerve and the trochlear nerve were also affected,of which 8 cases of orbital section could see the signal of abnormal nerve dominated by oculomotor nerve to lateral rectus.The both sides of six EOMS in all patients exhibited variable atrophy and abnormal bright internal signal on T1 imaging,particularly severe for the superior rectus and levator muscles. CONCLUSION： High- resolution MRI can directly demonstrate pathology of motor nerves,affected EOMs,and ‘Pulley ＇ hypoplasia caused by CFEOM Ⅰ due to mutations in KIF21 A,and these findings suggest that the neuronal hypoplasia is the etiological factor of CFEOM.

关 键 词：先天性眼外肌纤维化Ⅰ型 核磁共振 眼球运动神经 眼外肌 发育不良 

分 类 号：R777.4[医药卫生—眼科]