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.

Niemann-Pick disease type C, Orphanet Journal of Rare Diseases

The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

IJMS, Free Full-Text

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

Mitochondrial G8292A and C8794T mutations in patients with Niemann‑Pick disease type C Corrigendum in /10.3892/br.2018.1156

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The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Understanding the phenotypic variability in Niemann-Pick disease type C (NPC): a need for precision medicine

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Niemann-Pick Disease Type C

Niemann-Pick disease type C – topic of research paper in Biological sciences. Download scholarly article PDF and read for free on CyberLeninka open science hub.

White and gray matter alterations in adults with Niemann-Pick disease type C

Niemann Pick Disease - Rivin