Paediatric narcolepsy: complexities of diagnosis

Narcolepsy is a sleep disorder that is characterized by excessive daytime sleepiness and the inappropriate intrusion of aspects of rapid eye movement sleep into wakefulness. While the disorder emerges from an interplay of genetic and environmental factors, recent findings suggest that abnormalities in the neurotransmission of hypocretin may be implicated in its pathogenesis. Although narcolepsy has typically been associated with adulthood, there is a growing evidence base for the emergence of the disorder in childhood. We report suspected narcolepsy in early infancy, highlighting both the complexities of presentation and subsequent diagnosis associated with paediatric narcolepsy, and the significant psychosocial difficulties experienced by children and families managing this disorder.