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目的探讨Cockayne综合征(CS)的临床特点。方法对2012年12月24日收治的一例CS患者的临床资料进行回顾性分析,并结合该例患者资料,对CS相关文献进行复习。结果该患者典型的临床表现主要为生长发育不良伴智力障碍、特殊面貌、听神经受损及光敏性皮炎等,另外患者还存在特征性的影像学改变,符合CS诊断标准。因缺乏特效治疗措施,仅给予营养支持和对症治疗,嘱定期随访。结论 CS患者主要临床特征为生长发育障碍和多发神经系统受累。根据典型临床表现和特征性的影像学改变可对CS作出临床诊断,有条件者宜进行基因分型。目前CS尚无理想治疗方法,预后多不良。
Objective To investigate the clinical features of Cockayne syndrome (CS). Methods A retrospective analysis was performed on the clinical data of a patient with CS who was admitted on December 24, 2012. The CS related literature was reviewed according to the patient data. Results The typical clinical manifestations of this patient were mainly dysplasia with mental retardation, special face, auditory nerve damage and photosensitive dermatitis. In addition, there were characteristic imaging changes in patients with CS diagnosed. Because of the lack of special treatment measures, only to give nutritional support and symptomatic treatment, ordered regular follow-up. Conclusions The main clinical features of patients with CS are growth disorders and multiple nervous system involvement. According to the typical clinical manifestations and characteristic imaging changes can make a clinical diagnosis of CS, the conditions should be genotyped. At present, there is no ideal CS treatment, the prognosis and more bad.