CAJ | 학술논문

目的：利用高分辨MRI观察KIF21 A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KIF21 A基因R954 W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3 D-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KIF21 A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。
목적：이용고분변MRI관찰KIF21 A기인돌변적선천성안외기섬유화Ⅰ형적안운동신경화안외기적영상특정。 　　방법：대11례KIF21 A기인R954 W돌변적선천성안외기섬유화종합정Ⅰ형환자행MRI소묘。안외기화안운동신경적광내단채용이원-상위선권,2-mm층후T1가권상소묘；안운동신경적뇌지단채용두선권,0.6-mm층후3 D-FIESTA서렬소묘。 　　결과：선천성안외기섬유화Ⅰ형환자적동안신경、외전신경급활차신경적광내단화뇌지단도표현출불동정도적발육불량,기중8례적광내단견가의유동안신경향외직기발출적이상신경지배。전부환자쌍측륙조안외기불동정도적위축,이상직기화제상검기최위엄중。 　　결론：고분변MRI현시KIF21 A기인돌변적선천성안외기섬유화Ⅰ형환자안운동신경화안외기급‘Pulley'결구발육불량,제시선천성안외기섬유화적원발병변시운동신경발육결함。
AIM:To observe the structural basis of ocular motility abnormalities in patients with congenital fibrosis of the extraocular muscles type Ⅰ ( CFEOM Ⅰ) due to missense mutations in the developmental kinesin KIF21A using high - resolution magnetic resonance imaging ( MRI) . METHODS: Totally 11 affected individuals reported KIF21A 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 using head 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 KIF21A,and these findings suggest that the neuronal hypoplasia is the etiological factor of CFEOM.