ICU天使综合征.doc

窗体顶端 窗体底端 ICU; you see me 内容基于学习兴趣不能用于临床指导，转载请附链接及作者名称 天使综合征 上次OOXX过吸血鬼，丑八怪还是万人迷？ 得出给那些委屈了几千年的吸血鬼一个卟啉症＋狂犬病＋鼠疫？（待排）的诊断。 这次我们分析一下天使。 天使有什么特点？背后有翅膀？（那只能称作鸟人）天使应该是善良纯洁的化身，面带微笑、强大有力、举止优雅......想做一个像天使一样优雅的人 么？我初中班主任曾用学校门口卖豆腐脑的大叔为例的这样打击过幻想成为万人迷的祖国花花草草：“见人就笑，脑子差窍”。这句老话用陕西方言说出来（坚韧九 霄，闹子插敲），配合打豆花的大叔那个惨淡的经济状况，一脸微笑的憨厚事实，绝对有说服力。事实也再一次证明我们老祖宗经验的正确性，现实中，还真的有这 样的人。他们总是微笑，绝对善良，同时.....都有严重的智力发育障碍。我们把哪种总是微笑的善良天使（白痴）称作天使综合征 Angelman syndrome (AS)， 天使综合征 Angelman syndrome (AS)，又称天使征候群、安琪儿综合症等）也叫做“快乐木偶病Happy Puppet Disease“。病例特点是愉快面容，一逗就笑，手臂有木偶样动作，肌张力低，智力严重低下，严重运动、智力障碍, 共济失调, 肌张力低下,癫痫,语言障碍和以巨大下颌及张口吐舌为特征的特殊面容。临床表现的特征为患者常无明显诱因的大笑。Angelman综合征是一种神经遗传性 疾病，有时患者可能就诊于儿科或精神科。 Angelman综 合征疾病是怎样发现的？1965年，英国儿科医生Harry Angelman有三个智力低下，总是微笑，不会言语的小病人，他在没有任何进一步实验室检查条件的基础下，仅仅根据临床表现发表了他的发现。后来他去 Verona 的Castelvecchio博 物馆，看见这幅一个孩子完成木偶以后得意的回头微笑的油画a Boy with a Puppe，一瞬间灵魂附体，将那个疾病命名为“快乐木偶病”。后人为了纪念，也叫做天使病（没办法，人家名字就是天使男） 对比油画和患者，确实神似，都是那种纯粹的没有杂质的快乐。 很多年以后（1991），他这样写信给他的朋友讲述他的发现经过： ?The history of medicine is full of interesting stories about the discovery of illnesses. The saga of Angelmans Syndrome is one such story. It was purely by chance that nearly thirty years ago three handicapped children were admitted at various times to my childrens ward in England. They had a variety of disabilities, and although at first sight they seemed to be suffering from different conditions, I felt that there was a common cause for their illness. The diagnosis was purely a clinical one, because in spite of technical investigations, which today are more refined, I was unable to establish scientific proof that the three children all had the same handicap. In view of this I hesitated to write about them in the medical journals. However, when on holiday in Italy I happened to see an oil painting in the Castelvecchio museum in Verona called . . . a Boy with a Puppet. The boys laughing face and the fact that my patients exhibited jerky movements gave me the idea of writing an article about the three children with a title of Puppet