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BMJ Case Reports 2013; doi:10.1136/bcr-2012-007387
  • Case report

Kallmann syndrome and paranoid schizophrenia: a rare combination

  1. Lies Hoefsloot6
  1. 1Centre of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, The Netherlands
  2. 2Department of Psychiatry, Erasmus University Medical Centre, Rotterdam, The Netherlands
  3. 3Radboud University Nijmegen, Behavioural Science Institute and Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands
  4. 4Department of Clinical Research, Delta Psychiatric Centre, Poortugaal, The Netherlands
  5. 5Institute of Psychology, Erasmus University, Rotterdam, The Netherlands
  6. 6Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands
  1. Correspondence to Professor Willem M A Verhoeven, wverhoeven{at}vvgi.nl
  • Received 12 September 2012
  • Revised 8 October 2012
  • Accepted 9 October 2012
  • Published 17 January 2013

Summary

Kallmann syndrome (KS) is a genetically heterogeneous and rare disorder characterised by the combination of hypothalamic hypogonadism and anosmia/hyposmia, a variable degree of intellectual disability and several somatic anomalies. In about one-third of the patients, mutations have been identified in at least seven different genes. Virtually no data are available about possible neuropsychiatric symptoms in KS. Here, a young adult male is described with a previous clinical diagnosis of KS and recent paranoid schizophrenia of which positive, but not negative symptoms, fully remitted upon treatment with antipsychotics. Neither genome-wide array analysis nor mutation analyses disclosed imbalances or mutations in any of presently known KS disease genes. This is the first report on a patient with KS and paranoid schizophrenia in whom extensive genetic analyses were performed. It is concluded that further studies are warranted in order to elucidate a possible increased risk for psychiatric symptoms in patients with KS.

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