The authors describe a 38-year-old woman with stiff person syndrome (SPS) and gaze-holding nystagmus, limited abduction, vertical and horizontal ocular misalignment, deficient smooth pursuit, and impaired saccade init...The authors describe a 38-year-old woman with stiff person syndrome (SPS) and gaze-holding nystagmus, limited abduction, vertical and horizontal ocular misalignment, deficient smooth pursuit, and impaired saccade initiation. There was no evidence of ocular myasthenia, indicating that abnormalities of ocular motor function can occur as a primary manifestation of SPS, perhaps from depletion of GABA.展开更多
先天性眼外肌纤维化（congenital fibrosis of the extraocular m uscles,CFEOM）是一种遗传性非进展性疾病.病变特征为眼外肌广泛纤维化、眼球运动障碍、眼位偏斜,可伴有上睑下垂及全身其他系统的异常,发病率约为1/230 000[1].传统观...先天性眼外肌纤维化（congenital fibrosis of the extraocular m uscles,CFEOM）是一种遗传性非进展性疾病.病变特征为眼外肌广泛纤维化、眼球运动障碍、眼位偏斜,可伴有上睑下垂及全身其他系统的异常,发病率约为1/230 000[1].传统观点认为该病是原发性眼肌疾病,近年来的研究结果提示CFEOM可能是原发性神经病变继发肌源性改变的结果[2-3].笔者回顾性分析了6例散发CFEOM患儿的临床资料,以期发现CFEOM患者眼外肌及眼运动神经的MRI特征,为疾病的诊断和治疗提供影像依据.展开更多
文摘The authors describe a 38-year-old woman with stiff person syndrome (SPS) and gaze-holding nystagmus, limited abduction, vertical and horizontal ocular misalignment, deficient smooth pursuit, and impaired saccade initiation. There was no evidence of ocular myasthenia, indicating that abnormalities of ocular motor function can occur as a primary manifestation of SPS, perhaps from depletion of GABA.
文摘先天性眼外肌纤维化（congenital fibrosis of the extraocular m uscles,CFEOM）是一种遗传性非进展性疾病.病变特征为眼外肌广泛纤维化、眼球运动障碍、眼位偏斜,可伴有上睑下垂及全身其他系统的异常,发病率约为1/230 000[1].传统观点认为该病是原发性眼肌疾病,近年来的研究结果提示CFEOM可能是原发性神经病变继发肌源性改变的结果[2-3].笔者回顾性分析了6例散发CFEOM患儿的临床资料,以期发现CFEOM患者眼外肌及眼运动神经的MRI特征,为疾病的诊断和治疗提供影像依据.
