Martínez-Cayuelas Elena, Martínez-Salcedo Eduardo, Alarcón-Martínez Helena, Puche-Mira Alberto, Domingo-Jiménez Rosario, de Mingo-Casado Pedro, Serrano-García Cristina
Hospital General Universitario Virgen de la Arrixaca, El Palmar, Espana.
Rev Neurol. 2015 Apr 1;60(7):309-15.
Hirayama disease is a rare children's muscular atrophy that affects young Asian males, with muscular atrophy usually in one of the upper limbs that progresses slowly and later stabilises. It is diagnosed by means of electromyographic/electroneurographic with conduction speed studies (EMG/ENG-CS) and by magnetic resonance imaging (MRI) of the spinal cord in a neutral position and with cervical flexion. Treatment is based on the cervical collar and surgery (severe cases). Very few studies have been conducted on patients at the paediatric age.
We report the case of a 7-year-old girl with atrophy of the muscles of the left hand and forearm, and a disease history of two years. The EMG/ENG-CS scans presented signs of very severe chronic denervation in the myotomes of C7, C8 and T1 on the left side, with conservation of the amplitudes of sensory evoked potentials, consistent with cervical myelopathy. Results of an MRI scan of the cervical spinal cord in a neutral position were normal at that level. Later, owing to suspicions pointing towards Hirayama disease, a new MRI scan of the cervical spinal cord was performed in a neutral position and in flexion. This second scan showed asymmetry in the size and morphology of the anterior funiculi of the spinal cord at C6/C7, hypersignal in the homolateral anterior horn and ingurgitation of the posterior epidural venous plexus. With a diagnosis of Hirayama disease, treatment is started with a cervical collar in order to prevent the damage from getting worse.
This case of Hirayama disease is peculiar due to its epidemiological characteristics and is presented here with the aim of making this entity more widely known in our milieu. If diagnosed at an early stage, treatment is effective, and the studies conducted on children at the paediatric age are reviewed.
平山病是一种罕见的儿童肌肉萎缩症，主要影响亚洲年轻男性，通常表现为一侧上肢肌肉萎缩，病情进展缓慢，后期趋于稳定。通过肌电图/神经电图及传导速度研究（EMG/ENG-CS）以及中立位和颈椎屈曲位脊髓的磁共振成像（MRI）进行诊断。治疗方法包括使用颈托和手术（严重病例）。针对儿科患者的研究非常少。
我们报告一例7岁女孩，左手和前臂肌肉萎缩，病程两年。EMG/ENG-CS扫描显示左侧C7、C8和T1肌节有非常严重的慢性去神经支配迹象，感觉诱发电位振幅保留，符合颈椎病。中立位颈椎脊髓MRI扫描在该水平正常。后来，由于怀疑是平山病，在中立位和屈曲位再次进行颈椎脊髓MRI扫描。第二次扫描显示C6/C7水平脊髓前索大小和形态不对称，同侧前角高信号以及后硬膜外静脉丛充血。诊断为平山病后，开始使用颈托治疗以防止损伤加重。
该例平山病因其流行病学特征而具有特殊性，本文报告旨在使我们对该疾病有更广泛的认识。如果早期诊断，治疗是有效的，并对儿科患者的相关研究进行了回顾。
