Adult onset Niemann-Pick disease type C presenting with psychosis

Niemann-Pick disease type C (NPC) is an autosomal recessive neurometabolic disorder that rarely presents in adulthood, and is associated with cognitive decline, various movement disorders (ataxia, chorea, dystonia, and myoclonus), a vertical supranuclear gaze palsy (VSGP), and seizures. A recent case report demonstrated a delay in diagnosis of eight years when a patient with NPC presented with psychosis. This article reviewed all cases seen at the Mayo Clinic with a possible diagnosis of NPC between 1976 and 2000. Of the 52 possible cases, five had an established diagnosis of adult onset NPC. Of these, two presented with psychosis and were not diagnosed with NPC for 5 and 15 years, respectively. NPC may initially present in adulthood with psychosis, and when psychosis is associated with VSGP, various dyskinesias, and seizures, NPC should be suspected.

Rapid Diagnosis of 83 Patients with Niemann Pick Type C Disease and Related Cholesterol Transport Disorders by Cholestantriol Screening - eBioMedicine

Niemann–Pick disease, type C - Wikipedia

Niemann‐Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case - Chiba - 2014 - Neuropathology - Wiley Online Library

PDF) Adult-Onset Niemann–Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult

Niemann-Pick Disease, Type C1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Niemann-Pick Disease Type C

Niemann-Pick disease type C in Adults.pptx

Parkinsonism & Related Disorders

Psychiatric symptoms as a harbinger of adult-onset Niemann-Pick Type C - ScienceDirect

What Can a Neurometablic Disorder Tell Us About Schizophrenia?

Niemann-Pick disease type C in Adults.pptx

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Recommendations on the diagnosis and management of Niemann-Pick disease type C - ScienceDirect