Author:
Ben Rhouma Faten,Kallel Faten,Kefi Rym,Cherif Wafa,Nagara Majdi,Azaiez Hela,Jedidi Ines,Elloumi Moez,Abdelhak Sonia,Mseddi Sondes
Abstract
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.
Publisher
Springer Science and Business Media LLC
Subject
General Medicine,Histology,Pathology and Forensic Medicine
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