克莱恩-莱文综合征1例

Kleine-Levin Syndrome:a case report

克莱恩-莱文综合征(Kleine-Levin Syndrome,KLS)又称“睡美人综合征”,其典型三联征为反复性周期嗜睡、贪食和性欲亢进,可伴有行为或认知功能异常、情感障碍等,间歇期各项功能均完全正常。目前该疾病的发病机制、有利于诊断的辅助检查以及有效治疗方案尚不明确。由于不同地区及人群可能存在基因差异等原因,其临床表现也不尽相同,极易导致误诊。既往关于KLS患者进食异常的报道中贪食者约占66%,而我国KLS患者中厌食者更为常见。本例为11岁KLS男性患儿,其病程中前10个月发作期表现为厌食,半年随访中转变为贪食,我们分析了其详细病史、诊疗过程和鉴别诊断,以期为后续完善KLS临床特征及诊断思路提供参考。

Kleine-Levin Syndrome(KLS),also known as"sleeping Beauty Syndrome",is characterized by a typical triad of recurrent episodes of hypersomnia,bulimia,and hypersexuality,which may be accompanied by behavioral or cognitive dysfunction and affective disorders.During the intermittent period,patient′s all functions remain intact.At present,the pathogenesis of the disease,auxiliary examination that are beneficial for diagnosis and effective treatment plans are not clear.Due to the possible genetic differences in different regions and populations,the clinical manifestations of the disease are various,which can easily lead to misdiagnosis.According to previous studies,about 66%of the abnormal eating in KLS patients are bulimia,however,anorexia is more common in China.In this case,an 11-year-old Chinese male patient with KLS presented anorexia behaviors in the first 10 months since diagnosis,and changed to bulimia in the subsequent 6 months follow-up.We carefully investigated his medical history,diagnosis,treatment process and differential diagnosis,in order to provide better insights of the clinical characteristics and diagnosis of KLS.