Adult onset Niemann-Pick disease type C presenting with psychosis

Keith Anthony Josephs, M. W. Van Gerpen, Jay A Van Gerpen

Research output: Contribution to journalArticle

57 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)528-529
Number of pages2
JournalJournal of Neurology Neurosurgery and Psychiatry
Volume74
Issue number4
DOIs
StatePublished - Apr 1 2003

Fingerprint

Type C Niemann-Pick Disease
Psychotic Disorders
Paralysis
Seizures
Chorea
Dyskinesias
Movement Disorders
Ataxia

ASJC Scopus subject areas

  • Psychiatry and Mental health
  • Neuroscience(all)
  • Neuropsychology and Physiological Psychology

Cite this

Adult onset Niemann-Pick disease type C presenting with psychosis. / Josephs, Keith Anthony; Van Gerpen, M. W.; Van Gerpen, Jay A.

In: Journal of Neurology Neurosurgery and Psychiatry, Vol. 74, No. 4, 01.04.2003, p. 528-529.

Research output: Contribution to journalArticle

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