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Narcolepsy With Cataplexy

Narcolepsy is a disabling sleep disorder characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnagogic and hypnopompic hallucinations, and abnormal sleep–wake patterns. Cataplexy is described as sudden and transient loss of muscle tone, often triggered by intense emotion or excitement. Hallucinations and sleep paralysis occur during sleep–wakefulness transitions and are associated with rapid eye movement (REM) sleep. Although presence of all characteristics of narcolepsy is common in adult patients, the initial presentation of narcolepsy in children maybe subtle, and concomitant cataplexy, sleep paralysis, and hallucinations may not always present. In addition, symptoms may be difficult to recognize leading to delay in the diagnosis. We present the case history of a child with narcolepsy and cataplexy who was challenging to diagnose in the primary care setting. Our patient’s presentation points out the difficulty in arriving at the diagnosis of narcolepsy with cataplexy due to the clinical picture that can resemble other conditions. In this article, we review the clinical presentation of narcolepsy with or without cataplexy in childhood and discuss the disease pathogenesis, diagnostic tools, and treatment.