Antonioni Annibale, Fonderico Mattia, Granieri Enrico
Section of Neurology, Psychology and Psychiatry, Department of Biomedical and Specialty-Surgical Sciences, University of Ferrara, Ferrara, Italy.
Department of Neuroscience, Firenze, Italy.
Front Neurol. 2020 Mar 17;11:183. doi: 10.3389/fneur.2020.00183. eCollection 2020.
Hirayama Disease (HD) is a rare clinical condition that usually affects young people with preference for Asian males. It appears with unilateral distal amyotrophy or asymmetric bilateral amyotrophy of an upper limb which is to refer to an involvement of the spinal metamers C7-C8-T1. A clinical case of a female patient of Albanian nationality is described, with onset of the disease in adulthood and clinical and electrophysiological features suggestive of HD, without any characteristic imaging findings. Clinical investigations, EMG and radiological data facilitated the diagnosis and allowed the exclusion of degenerative forms of the motor neuron and radiculopathies. In this paper, we want to point out that the diagnosis of this pathology should be hypothesized even in the absence of characteristic epidemiological and imaging data.
平山病（HD）是一种罕见的临床病症，通常好发于亚洲男性青年。其表现为单侧上肢远端肌萎缩或不对称双侧上肢肌萎缩，累及脊髓节段C7 - C8 - T1。本文描述了一例阿尔巴尼亚籍女性患者的临床病例，该患者成年起病，临床及电生理特征提示平山病，但无任何特征性影像学表现。临床检查、肌电图及放射学数据有助于诊断，并排除运动神经元变性疾病和神经根病。在本文中，我们想指出，即使缺乏特征性的流行病学和影像学数据，也应考虑该疾病的诊断。
