Background Congenital fibrosis of extraocular muscles (CFEOM) affects patient' s appearance and quality of life,and no effective treatment for this disease is available.Imaging study is helpful for exploring the pathogenesis of CFEOM.Objective This study was to describe the characteristics of CFEOM associated with limb movement disorder using magnetic resonance imaging (MRI).Methods A family with CFEOM associated with limb movement disorder was investigated in Renmin Hospital of Wuhan University.Disease history was collected and the pedigree was investigated.Ophthalmologic examinations,including corrected visual acuity,refractive error,slitlamp examination,ophthalmoscopic examination,force of levator palpebrae superioris,ocular movement,eye position,forced duction test,and bell phenomenon examination,were performed.Ocular orbital and cranial MRI was performed in 4 CFEOM patients and 10 normal subjects to compare the structures of the extraocular muscles,motor nerve and cranium.Oral informed consent was obtained from each patient prior to any medical examination.Results A total of 1 1 members from 3 generations were investigated in this study,presenting with 4 cases of disease.The mode of inheritance of this family complied with the Mendelian autosomal dominant inheritance law.Clinical signs included disturbance of eye movement,deviation of eye position,ptosis,lack of Bell sign and positive reaction of passive pull test.In addition,unstable gait,improper body limb alignment,dysphasia and mental retardation were ohserved in 1 patient,which coincided with the diagnostic criteria of type 3 CFEOM.MRI results demonstrated that the levator palpebrae superioris,superior rectus and superior oblique muscle were clearly thinner,and the medial rectus,lateral rectus,inferior rectus muscle were thinning in the patients,showing significant differences in comparison with the normal controls(P＜O.05).The oculomotor and abducens nerves became thinner and even absent in the patients.Cranial MRI showed that Ⅲ-3 in the pedigree with callosum was shorter than that of the normal controls,suggesting that patient suffered from corpus callosum hypoplasia.Meanwhile,cranial MRI indicated the presence of cerebellar hypoplasia and the expansion of the fourth ventricle.Conclusions MRI demonstrates consistent abnormalities of the oculomotor nerves and abducens nerves in the affected individuals in this CFEOM 3 family,and some affected members exhibit two types of central nervous system abnormalities-corpus callosum and cerebellar hypoplasia.These findings suggest that CFEOM 3 is primarily a neuronal disease.%背景 先天性眼外肌纤维化综合征(CFEOM)严重影响患者的容貌和生活质量,治疗效果欠佳,影像学的研究有助于探讨其发病机制.目的 利用磁共振成像技术(MRI)研究伴有肢体运动障碍的CFEOM患者的影像学特征.方法 纳入伴有肢体运动障碍的一个CFEOM家系,采集患者病史,绘制家系图,对家系中的患者4例进行视力、屈光度、裂隙灯显微镜、检眼镜、眼位、眼球运动、被动牵拉试验、睑裂高度、Bell现象等检查.所有4例患者和纳入的正常对照者10人进行眼眶和头颅部高分辨率MRI检查,比较2个组眼外肌、眼运动神经及颅内结构情况.受试者均口头知情同意.结果 纳入该家系3代共11人,其中4例发病,每代均有发病者,符合孟德尔常染色体显性遗传规律.患者临床表现包括眼球运动障碍、眼位异常、上睑下垂、Bell征阴性和被动牵拉试验阳性,此外l例患者存在中枢神经系统症状,如步态不稳、肢体运动不协调、言语障碍及智力低下,符合CFEOM 3型.MRI检查发现,患者的提上睑肌、上直肌、上斜肌明显变细,内直肌、外直肌、下直肌均出现不同程度变细,与正常对照组比较差异均有统计学意义(P＜0.05).患者动眼神经及外展神经变细,甚至阙如.头颅MRI扫描结果显示,家系中Ⅲ-3患者的胼胝体体部较正常对照组受检者短小,膝部、压部、嘴部阙如,提示患者存在胼胝体发育不良,同时出现小脑的发育不良和第四脑室扩张.结论 CFEOM 3型家系发病者均有动眼神经和外展神经的发育异常,部分发病者合并胼胝体及小脑发育不良等中枢神经系统异常,CFEOM 3型的病因为神经源性.
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