Sleep disorders in NiemannPick disease type C, beyond cataplexy.

PURPOSE: The aim of this study was to clinically characterize sleep disorders in a cohort of Niemann-Pick type C (NPC) patients, correlating these findings with disease features and polysomnographic (PSG) results.

METHODS

We evaluated eight consecutive patients with molecular confirmation of NPC followed at the Hospital Geral de Fortaleza. Patients underwent a comprehensive neurological and sleep evaluation. Four participants underwent polysomnography and then performed the multiple sleep latency test.

RESULTS

All eight patients evaluated had sleep disorders. Four participants performed polysomnography followed by multiple sleep latency test. Chronic insomnia and Obstructive Sleep Apnea (OSA) were the most frequent sleep disorders (62,5%). Two patients were diagnosed with Restless Legs Syndrome (RLS) (25%) and two with probable REM sleep behavior disorder (RBD) (25%). All the patients who did polysomnography had reduced and/or disorganized sleep, with reduction on sleep efficiency, total sleep time and REM sleep time.

CONCLUSION

Our results suggest that sleep abnormalities in Niemann-Pick type C patients may be more prevalent than previously thought.