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本文报告一例Kearns-Sayre综合征的7岁儿童。由于棕榈酰辅酶A合成酶的缺陷导致肌肉脂类储积、肢体无力。患儿女性,没有血缘和类似病的家族史,精神发育迟缓。2岁时发现眼睑下垂和视网膜色素沉着。7岁时由于短暂的意识丧失,持续90分钟但无抽搐而住院。查体:体重和身高低于正常3%。眼外肌麻痹、听力减弱、轻度四肢无力、脊柱后突和畸形足。视网膜色素变性,伴有许多色素斑。ECG提示心动过速,去极化性失调。EEG显示广泛的散在θ波。肱二头肌和股四头肌EMG提示肌病。血清肌酸激酶78.5IU(正常0~34),醛缩酶37.5U(正常3~8),果糖-1-磷酸醛缩酶3.5U(正常0),血清总脂类790mg%(正常儿童378~510),脑脊液蛋白187mg%。7岁时做了肱二头肌和股四头肌活检,
This article reports a seven-year-old child with Kearns-Sayre syndrome. Due to palmitoyl-CoA synthetase defects lead to muscle lipid accumulation, limb weakness. Children with children, no family history of blood and similar illnesses, mental retardation. 2 years old found ptosis and retinal pigmentation. At age 7, he was hospitalized for 90 minutes without convulsions due to brief loss of consciousness. Physical examination: weight and height below normal 3%. Extraocular muscle paralysis, hearing loss, mild limb weakness, kyphosis and deformity foot. Retinal pigment degeneration, accompanied by many pigmented spots. ECG prompts tachycardia, depolarization disorders. EEG shows a wide range of scattered θ waves. Biceps and quadriceps EMG prompted myopathy. Serum creatine kinase 78.5 IU (normal 0-34), aldolase 37.5 U (normal 3-8), fructose-1-phosphate aldolase 3.5 U (normal 0), serum total lipids 790 mg% (normal children 378 ~ 510), CSF protein 187mg%. Biceps and quadriceps biopsy was done at 7 years old,