Adult gaucher disease in southern Tunisia: report of three cases

Abstract

BackgroundGaucher 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.FindingsMolecular 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.ConclusionThe 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.

Gaucher Disease: Clinical, Biological and Therapeutic Aspects

“…The study by Ben Rhouma et al [89] described the first report of an association between GD and PD in Tunisian adult patients with GD. In their study, 2 patients were homozygous for the N370S mutation and 1 patient developed PD at the age of 52 years.…”

“…So far, this mutation has been found in 44% of pediatric Tunisian patients with GD [84]. Unlike most of the autosomal recessive genetic diseases in Tunisia, of which the majority of patients are born to consanguineous marriages and which are homozygous for deleterious alleles, the N370S mutation is encountered in a heterozygous state in combination with other mutated alleles [89]. The first report describing adult patients with GD in Tunisia was published by our laboratory [90] and included a 50-year-old patient with GD without any neurological disorder.…”

Genetics and genomic medicine in Tunisia

“…A study of 30 affected individuals with GD revealed that N370S, L444P and RecNciI mutations account for 74% of the total GD alleles identified in Tunisian patients (Cherif et al., ; Table ). N370S is the most frequent mutation among Tunisian patients (53%) similar to southern European countries (Ben Rhouma et al., ). This finding suggests that the N370S mutation has been likely introduced in North Africa during the Roman Empire.…”

Successful Desensitization to Imiglucerase of an Adult Patient Diagnosed with Type I Gaucher Disease

“…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. Many adult cases of GD have been reported worldwide [2]. …”