Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat

Abstract

Niemann–Pick type C disease (NPC) was diagnosed in a 9-year-old boy. The diagnosis was confirmed by filipin fluorescence tests and by mutation analysis.

We report a successful treatment of cataplexy with miglustat, which is also approved for use in Gaucher’s disease.

Keywords

• Cataplexy
• Niemann-Pick type C
• Miglustat
• Children