A familial concurrence of schizophrenia and Gaucher's disease

Presentation of a family with two siblings with Gaucher's disease.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.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.Gaucher's disease (GD) is the most frequently encountered lysosomal storage disease [1] caused by autosomal recessive inborn defects in the glucocerebrosidase gene (GBA) at the 1q21 chromosome [2,3]. These defects eventually lead to accumulation of the glycolipid in lysosomes within macrophages of the reticuloendothelial system. Clinically, GD can present with a vast phenotypic heterogeneity [4], which can be predicted to some extent from the underlying mutation [5]. Three clinical forms of GD have been identified: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute neuronopathic [6]. The concurrence of Gaucher's disease and schizophrenia among siblings is a very rare phenomenon. In the present work, we describe a family with four sons, two of whom suffer from Gaucher's disease and another from schizophrenia, with one being free from any illness.In this six-member family, the first son displayed paranoid type of schizophrenia and the third and fourth sons displayed Gaucher's disease type 1, non-neuronopathic.The 23-year-old first son's symptoms, manifested from January 2003 for a period of 5 months. He reported a loss of interest for work, depression of moderate intensity and social withdrawal. In June 2003, he presented with an acute psychotic episode with delusional ideas of control of affect and auditory hallucin