Connor Victoria, Zhao Sizheng, Angus Robert
Aintree University Hospital, Liverpool, UK.
Aintree University Hospital, Liverpool, UK University of Liverpool Institute of Ageing and Chronic Disease, Liverpool, UK.
BMJ Case Rep. 2016 Aug 5;2016:bcr2016215621. doi: 10.1136/bcr-2016-215621.
Smith-Magenis syndrome (SMS) is a rare genetic neurodevelopmental disorder characterised by behavioural disturbances, intellectual disability and early onset obesity. The physical features of this syndrome are well characterised; however, behavioural features, such as sleep disturbance, are less well understood and difficult to manage. Sleep issues in SMS are likely due to a combination of disturbed melatonin cycle, facial anatomy and obesity-related ventilatory problems. Sleep disorders can be very distressing to patients and their families, as exemplified by our patient's experience, and can worsen behavioural issues as well as general health. This case demonstrates the successful use of non-invasive ventilation in treating underlying obesity hypoventilation syndrome and obstructive sleep apnoea. As a consequence of addressing abnormalities in sleep patterns, some behavioural problems improved.
史密斯-马吉尼斯综合征（SMS）是一种罕见的遗传性神经发育障碍，其特征为行为障碍、智力残疾和早发性肥胖。该综合征的身体特征已得到充分描述；然而，其行为特征，如睡眠障碍，却了解较少且难以处理。SMS患者的睡眠问题可能是由于褪黑素周期紊乱、面部解剖结构以及肥胖相关的通气问题共同导致的。睡眠障碍会给患者及其家人带来极大困扰，正如我们这位患者的经历所示，它还会使行为问题以及整体健康状况恶化。本病例展示了无创通气在治疗潜在的肥胖低通气综合征和阻塞性睡眠呼吸暂停方面的成功应用。由于解决了睡眠模式异常问题，一些行为问题得到了改善。
