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Gaucher disease (GD) is a lysosomal storage disease. It corresponds to a congenital deficit in β-glucocerebrosidase. This pathology should be considered in the presence of unexplained splenomegaly, with or without signs of haemorrhage, skeletal manifestations or hepatomegaly. The diagnosis is based on the measurement of the β-glucocerebrosidase activity but the preanalytical process should be respected in order to avoid the under-diagnosis of this disorder and the delay of its management. We report two cases of Gaucher disease collected at Mohammed VI University Hospital and Al Farabi regional hospital in Oujda. We have emphasized the need for a reference center for overload diseases.
PMID: 30881277 [PubMed]