Hypocretin deficiency develops during onset of human narcolepsy with cataplexy.

STUDY

OBJECTIVES

Although hypothesized through animal studies, a temporal and causal association between hypocretin deficiency and the onset of narcolepsy with cataplexy (NC) has never been proven in humans.

SETTING

Paediatric Department, Blekinge Hospital, Sweden, and Danish Center for Sleep Medicine, Glostrup Hospital, Denmark.

PATIENT AND

RESULTS

Two weeks after his second Pandemrix-vaccination, a 10 year old HLA-DQB1*0602-positive boy developed NC. The CSF hypocretin-1 level was 10 pg/ml. However, CSF saved from a pre-narcolepsy episode of Lyme disease revealed a normal hypocretin-1 level (318 pg/ml).

CONCLUSIONS

We confirm that hypocretin deficiency develops in parallel to the onset of human narcolepsy with cataplexy.