Psychosis symptoms associated with Niemann-Pick disease type C

Abstract

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 adolescentonset 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.

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

“…Psychotic symptoms have not previously described in Fucosidosis, but a number of LSDs present with neuropsychiatric symptoms at various stages of the disease process such as Alpha-mannosidosis, Niemann-Pick type C or later onset forms of GM2 gangliosidosis [ 30 , 31 ]. Oligosaccharidoses may have psychotic symptoms in adult or adolescent-onset forms, and they are indistinguishable from typical psychotic presentations of schizophrenia [ 31 ]. Psychiatric symptoms may even be the first manifestation of oligosaccharidoses [ [32] , [33] , [34] , [35] ].…”