Ruggieri V, Amartino H, Fejerman N
Servicio de Neurología, Hospital Nacional de Pediatría J.P. Garrahan, Buenos Aires, Argentina.
Rev Neurol. 1999;29(8):731-5.
Mirror movements (MM) are involuntary shudders which occur at the same time as voluntary movements of the homologous contralateral muscles. They may occur alone or associated with other pathology.
We present three new cases of congenital MM (CMM) and discuss their clinical, physiopathological and genetic aspects. Case 1. A four year old boy was brought to the clinic because he dropped things held in one hand when he tried to take things with the other. On examination it was seen that when he made a voluntary movement with one hand, the other hand made a similar movement simultaneously and involuntarily. This phenomenon had been observed since he was a few months old. Apart from this, the rest of the neurological examination was normal. Cerebral MR was also normal. Neuropsychological assessment showed borderline intellectual function. Case 2. The first patient's father, who was 26 years old, knew no details of his own family history. Since childhood he had noticed that he himself had made similar movements to those of his son. However, with time, he had managed to partially control and even inhibit these movements. His cerebral MR scan was normal. Case 3. An 11 year old boy consulted for MM, non-fluctuating congenital palpebral ptosis and nocturnal enuresis. The neurological examination and his intelligence were found to be normal. One of his sisters had palpebral ptosis and nocturnal enuresis without MM. His cerebral MR, X-ray of his spine, EMG, electroretinogram, CPK, blood lactate, glucemia, urine and urological examination were normal.
MM may be another manifestation within the clinical spectrum of diverse encephalopathies; may be associated with different syndromes (Kallman, Klippel-Feil and Usher amongst others) or may present alone. Both familial and sporadic cases have been described. We consider our cases 1 and 2 to be of the familial CMM condition, with autosomal dominant inheritance, in which MM was the only finding. The association observed in case 3 has not previously been described. It may possibly be a condition transmitted by autosomal recessive inheritance.
镜像运动（MM）是与对侧同源肌肉的自主运动同时出现的不自主颤动。它们可能单独出现，也可能与其他病变相关。
我们介绍三例先天性镜像运动（CMM）的新病例，并讨论其临床、生理病理和遗传方面。病例1. 一名4岁男孩因试图用一只手拿东西时另一只手拿不住东西而被带到诊所。检查发现，当他用一只手进行自主运动时，另一只手会同时不自主地做出类似动作。这种现象从他几个月大时就被观察到了。除此之外，其余神经学检查均正常。脑部磁共振成像（MR）也正常。神经心理学评估显示其智力处于临界水平。病例2. 第一名患者的父亲，26岁，对自己的家族病史一无所知。他从小就注意到自己会做出与儿子类似的动作。然而随着时间推移，他已设法部分控制甚至抑制这些动作。他的脑部磁共振成像扫描正常。病例3. 一名11岁男孩因镜像运动、非波动性先天性睑下垂和夜间遗尿前来就诊。神经学检查和智力测试均正常。他的一个姐妹有睑下垂和夜间遗尿，但没有镜像运动。他的脑部MR、脊柱X线、肌电图、视网膜电图、肌酸磷酸激酶（CPK）、血乳酸、血糖、尿液及泌尿系统检查均正常。
镜像运动可能是多种脑病临床谱中的另一种表现形式；可能与不同综合征（如卡尔曼综合征、克利佩尔 - 费尔综合征和乌舍尔综合征等）相关，或可能单独出现。家族性和散发性病例均有描述。我们认为病例1和病例2属于家族性CMM疾病，为常染色体显性遗传，其中镜像运动是唯一发现。病例三所观察到的关联此前未见描述。它可能是一种常染色体隐性遗传的疾病。
