Department of Psychiatry, Medical School, University of Thessaly, Greece. mouzas@med.uth.gr.
ABSTRACT: BACKGROUND: Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease. Here, we describe and discuss the observed concurrence of schizophrenia and Gaucher's disease in two siblings. METHODS: Presentation of a family with two siblings with Gaucher's disease. RESULTS: In a six-member family, the first son suffers from schizophrenia, while the third and fourth sons suffer from the Gaucher's disease (type 1 non-neuronopathic). The parents and the second son do not suffer from either illness. CONCLUSION: The concurrence of schizophrenia and Gaucher's disease in the same family is an unusual phenomenon. The literature regarding this coincidence is limited, despite the fact that patients with Gaucher's disease have one or two mutated alleles, considered to be a risk factor leading to conditions such as Dementia, Parkinson's disease and schizophrenia.