Kearns-Sayre综合征一例临床病理分析

目的探讨Kearns-Sayre综合征(KSS)的临床与病理形态学表现,旨在提高对该病的认识。方法对1例KSS患者的临床和病理特点进行分析。结果该患者表现为视物不清、双上睑下垂、慢性进行性眼外肌瘫痪、视网膜色素变性,眼底色素改变呈"椒盐状"、晕厥发作、心脏传导阻滞、小脑性共济失调、不育、脑脊液蛋白升高、脑脊液叶酸/血清叶酸比值降低。肌肉活检MGT染色发现有不整红边纤维(RRF),出现比例为11.6%。电镜观察表现为线粒体数目增多,形态异常,嵴排列紊乱等,可见线粒体内类结晶状包涵体。结论本例提示尽管KSS的临床表现多样,但对不明原因的单侧或双侧上睑下垂、眼球运动障碍伴视网膜色素变性和晕厥等症状的患者,应想到KSS的诊断,进行肌肉活检、遗传咨询和采取必要的措施,防止威胁生命的事件发生。

Clinicopathologic features of Kearns-Sayre syndrome

Objective To identify clinicopathologic characteristics of a Kearns-Sayre syndrome(KSS) patient and to improve the understanding of this rare syndrome.Methods The clinical and pathological characteristicsof a KSS patient was analysed retrospectively.We also reviewed KSS cases reported in the recent literatures and analyzed the neurological evolution.Results The patient showed visual impairment,bilateral ptosis,progressive external ophthalmoplegia,pigmentary retinal degeneration characterized by salt-and pepper-like appearanceof the funds,syncopal attack,cerebellar ataxia,infertility,elevated protein in the cerebrospinal fluid and reduced CSF folic-acid /serum folic-acid.Electrocardiogram(ECG) demonstrated complete right bundle branch block,and left anterior fascicular block.RRFs were found by muscle staining of MGT under light microscope.The proportion of RRFs was 11.6%.The ultrastructural alterations included subsarcolemmal accumulation of mitochondria,increased numbers of mitochondria,abnormal shape,disarrangement of cristae and paracrystaline inclusions.Conclusion The Kearns-Sayre syndrome is multisystemic disorder.KSS should be included in the early differential diagnosis of patients with etiologically unclear acquired isolated unilateral or bilateral ptosis,atypical eye movement disorders,pigmentary retinal degeneration,syncope.Identification of this syndrome and performing muscle biopsy are mandatory for diagnosis,qualified genetic counseling and the management of potentially life-threatening complications,such as cardiac involvement.