Adult gaucher disease in southern Tunisia: report of three cases

Molecular investigation showed mutational homogeneity in Tunisian adult patients suffering from GD. Indeed, all patients carry the p.N370S mutation: two patients at a homozygous state and one patient at compound heterozygous state.The p.N370S mutation presents a large variability in the onset of the disease and its clinical manifestation supporting the view that GD should be considered as a continuum phenotype rather than a predefined classification.The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/1701276661617840 webcite.Gaucher disease (GD) is the most frequent lysosomal storage disorder [1]. It is an autosomal recessive inborn defect in the glucocerebrosidase gene (GBA) on1q21 leading to enzymatic deficiency of the β-glucocerebrosidase and the accumulation of glycosylceramide substrate in the macrophage's lysosomes. GD is characterized by a considerable phenotypic and genotypic heterogeneity [2]. There is a wide range of clinical manifestationsfrom nearly asymptomatic patients who have mild bone pain up to full spectrum of severe complications with cytopenia, hepatosplenomegaly and pathologic fractures [3]. More than 200 mutations were identified along GBA gene http://www.hgmd.org webcite. In previous studies, investigation of GD showed that p.N370S, p.L444P and RecNciI mutations were relatively frequent in Tunisian patients [4,5]. In the present study, we report three Tunisian adult GD patients including one patient with Parkinson disease in whom the disease was incidentally found following bone marrow examination during check up for thrombocytopenia with splenomegaly. These cases were investigated for the p.N370S, p.L444P and RecNciI mutations in GBA gene.Three patients diagnosed with GD from three unrelated families from southern Tunisia were investigated. The diagnosis was based on the occurrence of hepatosplenomegaly associated with hematological abnormalities and/or bone lesions and was confirmed in all