Gaucher disease: About an observation

Abstract

Introduction: Gaucher disease is an inherited lysosomal storage disorder caused by defective discomfort. The consequence is the deficiency or complete absence of an important enzyme, β-glucocerebrosidase, which controls specific metabolic processes in the body.Characterized by hematological, visceral and bone lesions and classified into 3 types. The main objective of our study is to describe the diagnostic peculiarity of our patient with Gaucher Disease. Patient and Method: We report the observation of a child 6 years and 3 months old, history of prematurity, from a non-consanguineous marriage and a twin pregnancy. Since the age of 5 years, she has had arthralgia, bone pain and prolonged fever and whose examination found slightly discolored conjunctiva, arthralgia of the generals and a discreet splenomegaly.Laboratory assessment objectified hypochromic microcytic iron anemia, CRP and elevated ESR and imaging found enlargement of the distal metaphyses of both femurs on femur radio, slight homogeneous splenomegaly on the abdominal echo and cervico-thoraco-abdomino-pelvic CT scan found focus of condensation; Hepato-splenomegaly with a spleen containing fine calcifications; Isolated left ureteral dilation; Inhomogeneous bone pattern. B-Glucocerebrosidasa demonstrated low activity and genetic testing report was not detected for any pathogenic mutations. Conclusion: If the symptoms of the disease are detected early and a correct diagnosis is made, organ damage can be prevented or mitigated by adequate treatment.