Ma J S, Mak S C, Liu A M, Yang M T, Chi C S
Department of Pediatrics, Taichung Veterans General Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1997 Jul-Aug;38(4):297-9.
A 13 year-old girl with scoliosis and central core disease is reported. She was noted to have mild psychomotor developmental delay since early infancy. Scoliosis with minimal muscle weakness was noted at about five years old. The neurological examination disclosed absent knee jerk. The spine MRI showed no significant finding. The serum CK revealed 518 U/L. The muscle biopsy obtained from the quadriceps femoris muscle showed Type 1 fiber atrophy and predominance, as is commonly seen in congenital myopathies. Under nicotinamide adenine dinucleotide dehydrogenase (NADH) and succinate dehydrogenase (SDH) stains, core structures were identified and the diagnosis of central core disease (CCD) was made. Since kyphoscoliosis usually becomes prominent as muscle weakness progresses to loss of ambulation in other myopathies, the disproportionate spinal involvement in central core disease appears to be a striking feature. We suggest that all patients with idiopathic scoliosis deserve a thorough neurological evaluation if congenital myopathies are suspected. Muscle biopsy should also be recommended for a confirmatory diagnosis even if only minimal muscle weakness present. Besides, early detection of CCD helps us to identify the population who are at a higher risk for malignant hyperthermia.
报告了一名患有脊柱侧弯和中央核病的13岁女孩。自婴儿早期起，她就有轻度精神运动发育迟缓。约5岁时发现脊柱侧弯且肌肉无力轻微。神经系统检查显示膝跳反射消失。脊柱MRI未发现明显异常。血清肌酸激酶（CK）显示为518 U/L。从股四头肌获取的肌肉活检显示1型纤维萎缩且占优势，这在先天性肌病中常见。在烟酰胺腺嘌呤二核苷酸脱氢酶（NADH）和琥珀酸脱氢酶（SDH）染色下，发现了核心结构，从而做出了中央核病（CCD）的诊断。由于在其他肌病中，随着肌肉无力发展到无法行走，脊柱后凸侧弯通常会变得明显，而中央核病中脊柱受累程度不成比例似乎是一个显著特征。我们建议，如果怀疑先天性肌病，所有特发性脊柱侧弯患者都应接受全面的神经系统评估。即使仅存在轻微肌肉无力，也应建议进行肌肉活检以确诊。此外，早期发现中央核病有助于我们识别出恶性高热风险较高的人群。
