Logo image
Back
Adult gaucher disease in southern Tunisia: report of three cases
Journal article   Open access   Peer reviewed

Adult gaucher disease in southern Tunisia: report of three cases

Faten Ben Rhouma, Faten Kallel, Rym Kefi, Wafa Cherif, Majdi Nagara, Hela Azaiez, Ines Jedidi, Moez Elloumi, Sonia Abdelhak and Sondes Mseddi
Diagnostic pathology, Vol.7(1), pp.4-4
01/10/2012
DOI: 10.1186/1746-1596-7-4
PMCID: PMC3275535
PMID: 22233685
url
https://doi.org/10.1186/1746-1596-7-4View
Published (Version of record) Open Access

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. © 2012 Ben Rhouma et al; licensee BioMed Central Ltd.
 Tunisia Adult Gaucher disease p.N370S Parkinsson disease Short Report

Details

Metrics

16 Record Views
6 Times Cited - Web of Science
Logo image