青少年上肢远端肌萎缩症两例报道

Juvenile distal muscular atrophy of unilateral upper extremity: report of 2 cases

青少年上肢远端肌萎缩症又称为平山病,是一种少见的肌萎缩病,好发于男性,病变部位位于下颈段脊髓前角。该病典型特征是前臂尺侧肌萎缩,病变上肢呈斜坡样改变,疾病进展缓慢,具有自限性。该文报道2例平山病患者,均以右手与上肢无力为主诉入院,颈椎过屈位MRI均显示硬膜外腔增宽、硬脊膜增厚前移,肌电图均显示右上肢神经神经源性损害,经佩戴颈托及口服维生素B等治疗后均好转出院,随访5年情况良好。平山病的诊断主要结合患者的临床表现以及影像学、肌电图检查,其中颈椎过屈位MRI是临床中最常用的辅助检查,临床医师应提高对该病的认识,降低误诊率。

Juvenile distal muscular atrophy of the upper extremity, also known as Hirayama’s disease( HD), is a rare muscular atrophy disease, predominantly in the male. The lesion is primarily located in the anterior horn of the lower cervical spinal cord. It is typically characterized with the forearm ulnar muscular atrophy and the affected upper limb showing slope-like changes. The disease progresses slowly with selflimitating feature. In this article, two HD cases were reported, who were admitted to our hospital due to chief complaint of the weakness of the right hand and upper limb. MRI of the cervical spine in a hyperflexion position showed the widening of epidural space and the thickening and advancing of dura mater. Electromyography revealed the neurogenic injury of the right upper limb. Both patients were restored and discharged after neck brace treatment and oral vitamin B. Two patients remained physically stable during 5-year follow-up. The diagnosis of HD mainly depends upon clinical manifestations, imaging examination and electromyography. MRI of the cervical spine in a hyperflexion position is the most common auxiliary examination. Clinicians should improve their understanding of HD and reduce the misdiagnosis rate.