Nagai T, Tsuchiya Y, Maruyama A, Takemitsu M, Nonaka I
Department of Pediatrics, Tokyo Metropolitan Kiyose Children's Hospital, Japan.
Brain Dev. 1994 Mar-Apr;16(2):150-2. doi: 10.1016/0387-7604(94)90053-1.
A 12-year-old Japanese girl who had progressive severe scoliosis but with minimal muscle weakness in the extremities was found to have central core disease. In her muscle biopsies obtained from the biceps brachii and paraspinous muscles, there was type 1 fiber atrophy and predominance, as is commonly seen in congenital myopathies, but the core structure was identified only in the former. To determine whether scoliosis is a prominent feature of this disease, we reviewed 10 patients with central core disease in our laboratory and found 6 ambulant patients who had mild-to-moderate scoliosis. Since kyphoscoliosis becomes prominent as muscle weakness progresses to loss of ambulation in most muscle diseases, this disproportionate spinal involvement in central core disease appears to be a striking feature. All patients with 'idiopathic' scoliosis deserve a careful neurological evaluation, even if they have minimal muscle symptoms in the extremities.
一名12岁的日本女孩患有进行性严重脊柱侧凸，但四肢肌肉无力症状轻微，经诊断患有中央轴空病。在从肱二头肌和椎旁肌获取的肌肉活检样本中，出现了1型纤维萎缩和优势现象，这在先天性肌病中较为常见，但仅在前者中发现了轴空结构。为了确定脊柱侧凸是否是这种疾病的突出特征，我们回顾了本实验室的10例中央轴空病患者，发现6例能行走的患者有轻度至中度脊柱侧凸。由于在大多数肌肉疾病中，随着肌肉无力发展到无法行走，脊柱后凸侧凸会变得更加明显，因此中央轴空病中这种不成比例的脊柱受累似乎是一个显著特征。所有“特发性”脊柱侧凸患者都应接受仔细的神经学评估，即使他们四肢的肌肉症状很轻微。
