[P2-1~135] Poster Presentation 2

[P2-31] Clinical characteristics of a Chinese Angelman syndrome patient with two periods of long-standing fever

^○Xiaolu Chen^{1, 2} (1.Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China, 2.Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan university), Ministry of Education, Sichuan university, Chengdu, China)

A 9-month old Han female patient with Angelman syndrome (AS) who lived in Tibetan got two periods of long-standing fever (last 8 months at 6-month old and 2 months at 18-month old, respectively), she also presented with frequent meaningless laughing, mental and motor developmental delay, repeated convulsion seizures and abnormal EEG results. During a 3-year follow up, she was treated with antiepileptic drugs and moved to a place with low ambient temperature (14℃), low atmospheric pressure and hypoxia (2100m above sea level) by our suggestion. After a short time, her body temperature turned to a normal level. And she got seizure free, her mental and motor development also got improved. In this study, we may conclude that for patients with AS who having long-standing fever, its good for them to live in the place with low ambient temperature, low atmospheric pressure and hypoxia. Their clinic condition might got some improvements when their body temperature turns to normal.