28例中央轴空病的临床病理分析

目的探讨中央轴空病的临床病理特点及临床与病理间的关系。方法回顾性分析28例中央轴空病患者的临床及肌肉病理资料。结果28例中央轴空病病例中,22例出现明确的肢体肌无力,6例无临床症状；21例伴有骨、关节畸形；18例存在运动发育迟滞；在出生时,11例表现为松软婴儿,8例出现呼吸功能不全。所有病例在肌肉病理上均出现典型的中央轴空结构,部分病例同时出现一定量的偏心轴空以及多轴空结构；22例患者肌肉病理有明确的肌间质纤维化,与出现肌无力的患者相比,无临床症状者病理上出现相对较多的多轴空及偏心轴空,肌肉组织纤维化较轻。结论中央轴空病临床及病理表现可以有着很大的变异。

Clinicopathological features of 28 cases with central core disease

Objective To study the clinicopathological features of central core disease(CCD)in 28 cases and to explore the relation between clinical manifestations and pathological characteristics. Methods Clinical manifestations and pathological features of biopsied muscle specimens were summarized and analyzed retrospectively in 28 unrelated CCD cases.Results Among the 28 CCD patients,22 patients showed limb muscle weakness,while 6 patients didn't show any clinical symptoms. Skeletal and/or joint malformations occurred in 21 patients.Eighteen patients experienced delayed motor development.At birth,11 patients were floppy infants and 8 cases suffered form respiratory insufficiency. On biopsy,all patients showed typical central core structure,however,a few eccentric cores and/or multiple cores also appeared in some patients.Compared with those with muscle weakness,patients without any clinical symptom had more eccentric cores and/or multiple cores and less interstitial fibrosis.Conclusion The clinical manifestations and pathological features were variable in CCD patients.