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The Neuropsychiatry of Niemann-Pick Type C Disease in Adulthood

Received October 25, 2004; revised March 31, 2005; accepted April 8, 2005. From the Neuropsychiatry Unit, Royal Melbourne Hospital, Melbourne, Australia; Genetic Health Services Victoria, Royal Children’s Hospital, Melbourne, Australia; and Department of Biochemical and Molecular Genetics, Women’s and Children’s Hospital, Adelaide, Australia. Address correspondence to Dr. Walterfang, Neuropsychiatry Unit, Level 2, John Cade Building, Royal Melbourne Hospital, Melbourne 3050, Australia; mark.walterfang{at}mh.org.au (E-mail).

Psychotic symptoms occur in a variety of medical and neurological conditions. The authors describe three young men with a variant form of Niemann-Pick type C disease, a neurodegenerative disorder related to abnormal intracellular cholesterol metabolism, who presented with psychosis in early adulthood. Two patients were treated for schizophrenia for many years prior to a diagnosis of Niemann-Pick type C. The cases presented in this article illustrate the role of changes in both white and gray matter structures in psychosis, and, like the assessments of other neurodevelopmental disorders that predispose toward psychotic presentations, shed light on the underlying pathophysiology of major mental disorders.

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