Miskoff Jeffrey A, Chaudhri Moiuz
Internal Medicine, Jersey Shore University Medical Center, Neptune City, USA.
Cureus. 2018 Dec 31;10(12):e3801. doi: 10.7759/cureus.3801.
Narcolepsy is a chronic genetic and sleep disorder that is caused by a protein deficiency. This may affect the patients' sleep architecture and the brain's ability to control circadian rhythms. Individuals with this condition feel rested after waking but then feel tired and sleepy as the day progresses. Typical onset is during adolescence, but there is often a significant delay in diagnosis, which may markedly hinder an individual's quality of life. This case provides an opportunity to shed light on this often underdiagnosed or misdiagnosed condition by presenting a case of a remarkable individual who has persevered to be successful with the help of a timely diagnosis and aggressive off-label therapy.
发作性睡病是一种由蛋白质缺乏引起的慢性遗传性睡眠障碍。这可能会影响患者的睡眠结构以及大脑控制昼夜节律的能力。患有这种疾病的人醒来后会感觉休息好了，但随着一天的推进，会感到疲倦和困倦。典型发病期在青春期，但诊断往往会有显著延迟，这可能会明显妨碍个人的生活质量。本病例通过呈现一位非凡个体的案例，为揭示这种经常未被诊断或误诊的疾病提供了一个契机。该个体在及时诊断和积极的超说明书治疗的帮助下坚持并取得了成功。
