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Open Access Short report

Adult gaucher disease in southern Tunisia: report of three cases

Faten Ben Rhouma12, Faten Kallel3, Rym Kefi1, Wafa Cherif1, Majdi Nagara1, Hela Azaiez1, Ines Jedidi3, Moez Elloumi3, Sonia Abdelhak1* and Sondes Mseddi3

Author affiliations

1 Molecular Investigation of Genetic Orphan Diseases, Pasteur Institute, Tunis - Tunisia

2 Child Neurological diseases Unit, Faculty of Medicine, Tunis- Tunisia

3 Hematology Department, Hedi Chaker Hospital, Sfax- Tunisia

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Citation and License

Diagnostic Pathology 2012, 7:4  doi:10.1186/1746-1596-7-4

Published: 10 January 2012

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 webcite.

Keywords:
Adult; Gaucher disease; p.N370S; Parkinsson disease; Tunisia