adult gaucher disease in southern tunisia report of three cases成人在突尼斯南部戈谢病报告3例.pdfVIP

Ben Rhouma et al. Diagnostic Pathology 2012, 7:4 /content/7/1/4 SHORT REPORT Open Access Adult gaucher disease in southern Tunisia: report of three cases 1,2 3 1 1 1 1 3 Faten Ben Rhouma , Faten Kallel , Rym Kefi , Wafa Cherif , Majdi Nagara , Hela Azaiez , Ines Jedidi , Moez Elloumi3, Sonia Abdelhak1* and Sondes Mseddi3 Abstract Background: Gaucher disease (GD) is the most frequent lysosomal storage disorder; type 1 is by far the most common form. It is characterized by variability in age of onset, clinical signs and progression. It is usually diagnosed in the first or second decade of life with the appearance of bone pains, splenomegaly and thrombocytopenia, but the disease may be diagnosed at any age between 1 and 73 years. In the present study, we report 3 cases with late onset of GD in whom the disease was a surprise finding including one patient with Parkinson disease. This late onset is described as an adult form of Gaucher disease. Findings: 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. Conclusion: 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. Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/ vs/1701276661617840. Keywords: Adult, Gaucher disease, p.N370S, Parkinsson disease, Tunisia Findings RecN