探讨1例伴2次长期发热的Angelman综合征(AS)患儿的临床特点，并结合相关文献进行分析。

选择2013年9月，因"发热3^＋个月，抽搐5次"于四川大学华西第二医院就诊的1例居住藏区的9个月龄汉族女性AS患儿为研究对象。回顾性分析其临床病历资料，并检索建库至2015年8月，维普、中国知网、万方及PubMed数据库中关于AS伴发热的相关文献进行分析。

①病史采集结果：本例患儿2次长期发热，分别于6个月龄时持续发热8个月，18个月龄时持续发热2个月，发热前均有明确呼吸道感染诱因，抗感染治疗后仍发热。患儿有频繁无意义笑容，伴语言发育落后、头部控制差、双目不能追物，以及手、足有较多不自主运动等精神及运动发育落后，反复抽搐发作及脑电图异常，染色体微阵列分析显示15 q11.2-q13.1缺失，甲基化检查基因分析结果为母源性15 q11-13缺失。对其随访观察3年，期间给予抗癫痫治疗，移居到低温(14 ℃)或低压(氧)地区(海拔2 100 m)可短时间内缓解其发热，抽搐发作及精神、运动发育落后随体温下降而好转。②文献检索结果：在本研究检索条件下，共检索到10篇AS伴发热相关文献，仅其中2篇文献报道了3例长期发热AS患儿，长期发热次数均为1次。

长期发热的AS患儿体温，可能受低温及低氧环境影响而下降，其抽搐发作及精神、运动发育落后临床的表现，随体温正常而好转。

To explore the clinical characteristics of an Angelman syndrome(AS) child who had 2 periods of long-standing fever, and to analyze it by summarizing pertinent literature.

A 9-month old Han girl with AS who lived in Tibetan and hospitalized due to" fever for 3⁺ months and convulsion for 5 times" in West China Second University Hospital, Sichuan University in September 2013, was chosen as study object. Retrospectively analyzed the clinical case history and the cases of AS with fever were searched from VIP, CNKI, Wanfang, and PubMed Database from their establishment to August 2015.

①The case report results: the girl presented with two periods of long-standing fever (last 8 months at 6-month old and 2 months at 18-month old, respectively) which caused by respiratory infections in the beginning, and still had fever for a long time after therapy by the antibiotic. She presented with frequent meaningless laughing, and mental and motor developmental delay, such as development delay of speech, head control unsteady, seen without following objects, involuntary movements of the hands and feet, repeated convulsions and abnormal electroencephalogram patterns. She had a microarray analysis and was found deletion of 15q11.2-q13.1, the methylation-speccific multiplex ligation-dependent probe amplification method test confirmed maternal deletion of 15 q11-13. Followed up 3 years, she got the treatment with antiepileptic drug and her body temperature dropped to a normal level after she lived in low ambient temperature(14 ℃) or low atmospheric pressure and hypoxia region(2 100 m above sea level) for a short time. Then she got seizure free, mental and motor development improved with the high body temperature droped. ②Literature retrieval results: ten related articles of AS with fever were found from the databases above mentioned, there were only 2 of which included 3 AS cases that had long-standing fever with 1 period.

There are some improvement of long-standing fever for children with AS when they are living in the low ambient temperature, low atmospheric pressure and hypoxia region.Their convulsive seizure, mental and motor developmental delay would improved with the body temperature drops to normal.