新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症3例尸检及文献复习  

Autopsy report and literature review on 3 cases of neonatal carnitine palmitoyl transferase deficiency Ⅱ

作　　者：秦艳[1] 王夷黎[1] 刘小燕[1] 陈莹[1] 

机构地区：[1]佛山市妇幼保健院病理科,528000

出　　处：《国际医药卫生导报》2010年第24期3000-3003,共4页International Medicine and Health Guidance News

摘　　要：目的 探讨新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床及病理特征.方法 分析新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症的临床表现、病理改变及串联质谱（MS-MS）分析检测,并复习相关文献.结果 尸检发现新生儿除肌肉出现大量脂肪滴之外,其他全身各个重要脏器心、肝、脾、肾等均有不同程度的脂肪空泡沉积.串联质谱（MS-MS）分析检测报告均符合肉碱棕榈酰转移酶Ⅱ缺乏症检测指标改变.结论 新生儿型肉碱棕榈酰转移酶Ⅱ缺乏症病情危重,为全身系统性疾病;诊断本疾病需结合临床、病理及实验室等各项检查.Objective To investigate the clinical and pathological of carnitine palmitoyl transferase deficiency Ⅱ .Methods We reviewed related literature and analyzed the clinical manifestation,pathological changes of this disease, and sent to tandem mass spectrometry（MS-MS）analysis of detection,Results The important organs such as heart, liver, spleen and kidney all have steatosis, except muscle. Tandem mass spectrometry （MS-MS） analysis wasconsistent with its changes.Conclusion Neonatal carnitine palmitoyl transferase deficiency Ⅱ has critical condition and also a systemic disease. Diagnosis of the disease need to combine with clinical, pathological and laboratory examination, etc.

关 键 词：肉碱棕榈酰转移酶Ⅱ缺乏症 脂质沉积性肌病 尸检 串联质谱(MS—MS)分析 

分 类 号：R722[医药卫生—儿科]