Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy
Choreic movements and MRI abnormalities in the subthalamic nuclei reversible after administration of coenzyme Q10 and multiple vitamins in a patient with bilateral optic neuropathy
复制标题
双侧视神经病变患者服用辅酶 Q10 和多种维生素后，丘脑底核的舞蹈运动和 MRI 异常可逆转
作者：
P. Chariot;P. Brugières;Marie‐Christine Eliezer‐Vanerot;C. Geny;M. Binaghi;P. Césaro
一名37岁的男子在几个月内出现了四肢的编舞动作。他的病史包括9岁时发现双眼视力丧失，20岁时视力恶化。视野检查显示中央暗点。眼底检查显示视盘萎缩，血管变窄。诊断为Leber遗传性视神经病变(LHON)。没有视力丧失或运动障碍的家族史。血乳酸：丙酮酸比值中度升高。骨骼肌活检正常。磁共振成像显示双侧丘脑底核和黑质外侧T1加权序列低信号病变。在T2加权序列上，面对红核外侧部的锥体束也显示出线性高透明信号。RFLP分析排除了9个LHON相关突变。开始辅酶Q10 250 mg/d和多种维生素的治疗。运动障碍的逐渐恢复超过1年。乳酸盐与丙酮酸的比率正常化。未观察到视功能改变。3年后进行的磁共振成像显示，丘脑底核的病变几乎完全消失。我们认为患者可能患有一种不寻常的、遗传上没有特征的线粒体疾病，合并了视神经病变和舞蹈病。
A 37‐year‐old man developed choreic movements of the limbs over a few months. His medical history included bilateral visual loss detected at the age of 9 and worsening at age 20. Visual field testing showed a central scotoma. Fundus examination showed atrophy of the optic disks and narrowing of vessels. The diagnosis of Leber hereditary optic neuropathy (LHON) was considered. There was no family history of visual loss or movement disorders. Blood lactate:pyruvate ratio was moderately elevated. Skeletal muscle biopsy was normal. Magnetic resonance imaging showed bilateral hypointense lesions on T1‐weighted sequences in the subthalamic nuclei and in the lateral part of the substantia nigra. Linear hyperlucencies in the pyramidal tract facing the lateral part of the ruber nuclei were also demonstrated on T2‐weighted sequences. Nine LHON‐associated mutations were ruled out by RFLP analysis. Treatment with 250 mg coenzyme Q10 per day and multiple vitamins was initiated. Gradual recovery in movement disorders occurred over 1 year. Lactate to pyruvate ratio normalized. No change of visual function was observed. On magnetic resonance imaging performed 3 years later, lesions of the subthalamic nuclei almost completely disappeared. We think the patient might have an unusual, genetically uncharacterized mitochondrial disorder, combining optic neuropathy and chorea.
影响因子：
9.8
作者：
D. Mackey;N. Howell
通讯作者：
D. Mackey;N. Howell
双侧视神经萎缩什么时候会变成莱伯遗传性视神经病？
影响因子：
9.8
作者：
Howell,N;Halvorson,S;Burns,J;McCullough,DA;Paulton,J
通讯作者：
Paulton,J
DOI：
10.1016/0006-291x(91)91567-v
发表时间：
1991-02-14
影响因子：
3.1
作者：
JOHNS, DR;BERMAN, J
通讯作者：
BERMAN, J