Narcolepsy - when diagnosis doesn't meet all the criteria – case report

Narcolepsy is a rare chronic sleep disorder characterized by a pentad of clinical symptoms: excessive daytime sleepiness, cataplexy, hypnagogic or hypnopompic hallucinations, sleep paralysis and disturbance of nocturnal sleep. The presence of cataplexy defines Narcolepsy Type 1 (NT1), an auto-immune disease with destruction of hypocretin -1 (hcrt1) neurons and low hcrt1 levels in cerebrospinal fluid (CSF). We present a case of an adolescent with excessive daytime sleepiness and cataplexy with normal levels of hcrt1 in CSF. The literature describes about ten percent of NT1 cases with normal CSF hcrt1 levels.