Psychosis symptoms associated with Niemann-Pick disease type C

• Main Author: Ong, Leong Tung
• Format: Article
• Published: 2021
• Subjects: R Medicine (General)
• Online Access: http://eprints.um.edu.my/26227/; https://doi.org/10.1097/YPG.0000000000000286

Niemann-Pick disease type C (NP-C) is a severe neurovisceral lipid storage disease that results in the accumulation of unesterified cholesterol in lysosomes or endosomes. The clinical presentations of NP-C are variable which include visceral symptoms, neurologic symptoms and psychiatric symptoms. Psychosis is the most common psychiatric manifestation of NP-C and is indistinguishable from a typical psychosis presentation of schizophrenia. The common psychotic presentations in NP-C include visual hallucinations, delusions, auditory hallucinations and thought disorders. Psychosis symptoms are more common in adult or adolescent-onset forms compared with pediatric-onset forms. The underlying pathophysiology of psychosis in NP-C is most probably due to dysconnectivity particularly between frontotemporal connectivity and subcortical structures. NP-C sometimes is mistaken for schizophrenia which causes delay in treatment due to lack of awareness and literature review. This review aims to summarize the relevant case reports on psychosis symptoms in NP-C and discuss the genetics and pathophysiology underlying the condition.