Introduction
Narcolepsy is a chronic neurological disorder characterized by excessive daytime sleepiness and abnormal rapid eye movement manifestations, such as cataplexy, sleep paralysis, and hypnagogic hallucinations. Symptoms usually begin in childhood or adolescence, and diagnosis is often delayed. Treatment typically involves wake-promoting agents, antidepressants, and more recently, histamine H3 receptor antagonists like pitolisant. Given its complexity, real-world evidence on treatment strategies is needed.
Objectives and patients
This study describes three clinical cases of narcolepsy treated with pitolisant and followed longitudinally, focusing on clinical response, dose adjustments and functional outcomes. Case one involves an eight-year-old girl with excessive daytime sleepiness, later developing cataplexy. Pitolisant was titrated to 18 mg/day. In case two, a six-year-old boy presented with severe hypersomnia, cataplexy, hallucinations, and Tanner stage II pubertal development. Pitolisant started at 4.5 mg/day, increased to 9 and then to 13.5 mg/day. Case three concerns a 49-year-old man whose childhood-onset symptoms evolved into hypersomnolence, snoring, and non-restorative sleep. Pitolisant was started at 9 mg/day, increased to 36 mg/day, and then reduced to 18 mg/day.
Results
At five months, case one reported near-normal functioning. In case two, daytime sleepiness resolved, school attendance resumed, weight stabilized, and pubertal progression halted. In case three, Epworth Sleepiness Scale scores dropped, and the patient remained stable.
Conclusions
These cases illustrate diagnostic complexity and the need for personalized treatment. Pitolisant proved effective in improving excessive sleepiness, cataplexy, and functioning. The findings underscore the importance of early diagnosis, tailored pharmacotherapy, and real-world clinical data to refine management, especially in complex cases.
