Kearns-Sayre syndrome的临床研究

Clinical Study on Kearns-Sayre Syndrome

目的探讨Kearns-Sayre syndrome(KSS)的临床诊断及治疗方法。方法对2006年8月和2007年12月本院收治的2例Kearns-Sayre syndrome患儿的临床表现、诊断依据、实验室检查结果进行研究,并对随访1年的结果进行分析总结。结果2例患儿均表现为20岁前发病、慢性进行性眼外肌麻痹、视网膜色素变性Kearns-Sayre syndrome三联征及心脏传导阻滞、脑脊液蛋白升高,同时伴小脑共济失调、听力损伤、智力低下等临床症状。病例1确诊后放弃治疗出院,1年后身高、智力较同龄人低下,肌无力进行性加重。病例2给予心脏起搏器安置后,起搏器工作良好,1年内身高增长约8cm,与同龄儿比较,生长速率无明显差异,肌无力症状无明显加重,生活质量改善。结论对于20岁前发病、慢性进行性眼外肌麻痹、视网膜色素变性的Kearns-Sayre syndrome三联征患者,并具备以下3点之一:心脏传导阻滞、脑脊液蛋白含量升高(>100mg/dL)[正常值为(20～40)mg/dL]、小脑共济失调,即可作出Kearns-Sayre syndrome的临床诊断,肌活检及基因检测,可进一步支持和确诊Kearns-Sayre syndrome。对该病患儿进行早期对症治疗可明显改善预后。

Objective To investigate clinical features, diagnosis and treatment of Kearns-Sayre syndrome（KSS）. Methods From August 2006 to December 2007, 2 cases of Kearns-Sayre syndrome were diagnosed in the Department of Pediatrics, West China Second University Hospital, Sichuan University, and were followed-up 1 year. The clinical features, diagnostic basis, and outcomes of laboratory examination were reviewed. Results Both of two patients had onset before 20-year old, progressive external ophthalmoplegia, pigmentary retinopathy, cardiac conduction defects, greater eerebrospinal fluid protein level as well as cerebellar ataxia, hearing damage, mental retardation. After 1 year following-up, the one without treatment had lower intelligence and height compared with normal children, and muscle weakness was worse than before, and the other one after pacemaker implanted had nearly normal growth, no progressing in myasthenia. Conclusion Diagnosis of Kearns-Sayre syndrome is based on clinical invariant triad： Onset before 20 years old, progressive external ophthalmoplegia, pigmentary retinopathy, and at least one of the following symptoms： Cardiac conduction defects, cerebrospinal fluid protein level 〉100 mg/dL, and cerebellar dysfunction. Gene study and muscle biopsy could serve another piece of evidence in the quest for a firm diagnosis of Kearns-Sayre syndrome. Early treatment of Kearns-Sayre syndrome could improve its prognosis.