Interdisciplinary approach to diagnosing adult-onset Niemann-Pick disease type C

Abstract

We present a case report of a patient with adult-onset Niemann-Pick disease type C (NPC), emphasizing an interdisciplinary approach to diagnosis and treatment. The patient is a compound heterozygote for two different mutations in the NPC1 gene, described for the first time in a Czech NPC cohort. (C) 2016 Published by Elsevier GmbH.

Keywords

• Niemann-Pick type C
• Adult onset
• Miglustat
• Disease modifying therapy