Gaucher disease in differential diagnosis of splenomegaly
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Abstract
Objective: We aim to present Gaucher disease in the differential diagnosis of esplenomegalias in childhood. Case description: This article reports a case of female child of six years-old, with anemia and splenomegaly, bruises sporadic, episodes of bone and abdominal pain of repetition. She carried out the diagnosis by decreased activity of Betaglicosidase. After nine months of treatment with imiglucerase, the child presented weight and height satisfactory development, and hematology and viscera were within normal limits. Discussion: Gaucher disease is a multisystem disease and is part of the differential diag-
nosis of splenomegaly in childhood. It is the most prevalent among more than 50 types of stock lysosomal diseases described. Glucocerebrosides accumulate in tissue macrophages, altering normal functions of these organs and tissues, and causing irreversible damages. Patients with Gaucher disease have variable clinical presentation and do not always correlate with specific genotypes. Considering the fact splenomegaly is common to many diseases, it is necessary the inclusion of Gaucher disease in its broad differential diagnosis. Although Gaucher disease is an uncommon condition, it presents a clinical picture very similar to high prevalence diseases, requiring an early and specific diagnosis, with multidisciplinary follow-up, in order to obtain proper clinical management and consequently lower morbidity.
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