Main Article Content
Gaucher disease is an autosomal recessive genetic disorder caused by a deficiency of a lysosomal enzyme, β-glucocerebrosidase, which is responsible for the accumulation of glucosylceramide in the lysosomes of macrophages in the liver, spleen and bone marrow. Clinical expression is highly variable from cytopenia, osteoarticular to neurological manifestations, resulting in delayed diagnosis. Diagnosis can be made by measuring the activity of β-glucocerebrosidase, the myelogram or osteomedullary biopsy, and treatment is essentially medical, based on enzyme replacement therapy.
Splenectomy is considered in situations where haematological complications are in the foreground, such as hypersplenism, haemorrhagic syndrome, or a symptomatic large splenomegaly.
We report the case of a 45-year-oldmalewith arthralgia and a large spleen whose myelogram and osteo-medullary biopsy was in favour of Gaucher disease. In the face of hypersplenism and symptomatic enlarged spleen, a total splenectomy was performed. The histological study showed the accumulation of substances called glucocerebrosides inside the lysosomes of cells in the macrophagic system.
Guggenbuhl, Pascal, Grosbois, Bernard, And Chalès, Gérard. Gaucher Disease. Revue Du Rhumatisme. 2008;75(3):198-206.
Belmatoug, Nadia, Caubel, Isabelle, Stirnemann, Jerome, et al. Gaucher Disease. Journal De La Societe De Biologie. 2002;196(2):141-149
Brady Roscoe O, Kanfer, Julian N, Et Shapiro, David. Metabolism of Glucocerebrosides Ii. Evidence of an enzymatic deficiency in Gaucher's Disease. Biochemical and Biophysical Research Communications. 1965;18(2): 221-225.
Boot Rolf G, Verhoek, Marri, De Fost, Maaike, et al. Marked elevation of the chemokine Ccl18/Parc In gaucher disease: A novel surrogate marker for assessing therapeutic intervention. Blood. 2004;103 (1):33-39.
Tamargo, Rafael J, Velayati, Arash, Goldin, Ehud, et al. The role of saposin C in gaucher disease. Molecular Genetics and Metabolism. 2012;106(3): 257-263.
Michelakakis, Helen, Spanou, Cleopatra, Kondyli, Anastasia, et al. Plasma tumor necrosis factor-A (Tnf-A) levels in gaucher disease. Bichimica and Biophysica Acta (Bba)-Molecular Basis of Disease. 1996; 1317(3):219-222.
Nguyen Y, Stirnemann J, Belmatoug N. Gaucher disease: When to think about it. La Revue De Médecine Interne. 2019; 40(5):313-322.
Stirnemann, Jerome, Belmatoug, Nadia, Camou, Fabrice, et al. A review of gaucher disease pathophysiology, clinical presentation and treatments. International Journal of Molecular Sciences. 2017;18(2): 441.
Taddei, Tamar H, Dziura, James, Chen, Shu, et al. High incidence of cholesterol gallstone disease in type 1 gaucher disease: Characterizing the biliary phenotype of type 1 gaucher disease. Journal of Inherited Metabolic Disease. 2010;33(3):291- 300.
Mignot, Cyril, Doummar, Diana, Maire, Irene, et al. Type 2 gaucher disease: 15 new cases and review of the literature. Brain and Development. 2006;28 (1)39-48.
Tylki-Szymańska, Anna, Vellodi, Ashok, El-Beshlawy, Amal, et al. Neuronopathic gaucher disease: Demographic and clinical features of 131 patients enrolled in the International Collaborative Gaucher Group Neurological Outcomes Subregistry. Journal of Inherited Metabolic Disease. 2010;33(4):339- 346.
HAS/Long - term affections service and conventional agreements; 2007. Available:www.has-sante.fr/jcms/c_2580600/fr/maladie-de-gaucher