Sleep Center, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Pediatr Neurol. 2012 Nov;47(5):362-5. doi: 10.1016/j.pediatrneurol.2012.08.005.
Narcolepsy is characterized by recurrent brief attacks of irresistible sleepiness. Signs can begin during childhood. However, diagnoses are frequently delayed by 10-15 years because of unfamiliarity with pediatric narcolepsy and variable presentations of its associated features (cataplexy, hypnagogic/hypnopompic hallucinations, and sleep paralysis). Therefore, patients may remain untreated during their formative years. Three children with narcolepsy who were initially misdiagnosed are described. Each child's signs were initially related to depression, hypothyroidism, jaw dysfunction, or conversion disorder. However, after a multiple sleep latency test, the diagnosis of narcolepsy was established. All three patients were treated appropriately with stimulant medications, selective serotonin reuptake inhibitors, or sodium oxybate, and demonstrated positive responses. Although no definitive cure exists for narcolepsy, early recognition and appropriate symptomatic treatment with medications can allow affected children to improve quality of life and achieve normality, both academically and socially.
发作性睡病的特征是反复发作的不可抗拒的嗜睡。症状可能在儿童时期开始出现。然而，由于对儿童发作性睡病不熟悉以及其相关特征（猝倒、入睡前幻觉和睡眠瘫痪）表现多变，诊断常常延迟 10-15 年。因此，患者在成长过程中可能得不到治疗。本文描述了 3 例最初误诊的发作性睡病患儿。每个孩子的症状最初都与抑郁症、甲状腺功能减退症、咀嚼功能障碍或转换障碍有关。然而，经过多次睡眠潜伏期试验，确诊为发作性睡病。所有 3 例患者均接受了适当的兴奋剂药物、选择性 5-羟色胺再摄取抑制剂或羟丁酸钠治疗，并取得了积极的反应。尽管发作性睡病没有明确的治愈方法，但早期识别和适当的药物对症治疗可以使受影响的儿童提高生活质量，实现学业和社会生活的正常化。
