Journal of Inherited Metabolic Disease

, Volume 32, Supplement 1, pp 221–226 | Cite as

Gender dimorphism in siblings with schizophrenia-like psychosis due to Niemann-Pick disease type C

  • M. Walterfang
  • M. Fietz
  • L. Abel
  • E. Bowman
  • R. Mocellin
  • D. Velakoulis


We describe the differential presentation of schizophrenia-like psychosis in two siblings with the ‘variant’ biochemical presentation of adult Niemann-Pick disease type C. The male sibling presented with psychosis at age 16 years and cognitive and motor disturbance at age 25 years, whereas his elder sister, sharing the same mutation but showing less severe biochemical, neuroimaging and ocular motor parameters, presented with a similar schizophrenia-like illness with associated cognitive and motor disturbance at age 31 years. Their illness onset, course and response to treatment mirrors the sex dimorphism seen in schizophrenia, and is suggestive of an interaction between the neurobiology of their metabolic disorder and sex differences in neurodevelopment.


Schizophrenia Olanzapine Metachromatic Leukodystrophy Sevin Persecutive Delusion 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Niemann-Pick disease type C


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Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • M. Walterfang
    • 1
  • M. Fietz
    • 2
  • L. Abel
    • 3
  • E. Bowman
    • 3
  • R. Mocellin
    • 1
  • D. Velakoulis
    • 1
  1. 1.Neuropsychiatry UnitRoyal Melbourne HospitalMelbourneAustralia
  2. 2.Department of Chemical PathologyWomen’s and Children’s HospitalAdelaideAustralia
  3. 3.Department of Optometry and Vision SciencesUniversity of MelbourneMelbourneAustralia

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