Objective: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype. Case description: Patient at the age of three years and six months with a history of anemia and splenomegaly for the past two years. Physical examination showed: moderate paleness, systolic murmur in mitral and tricuspid areas without irradiation, significant splenomegaly and mild hepatomegaly. Hemogram presented normocytic and normochromic anemia and mild thrombocytopenia. To investigate bone marrow-related anemias, a myelogram was indicated and the results showed medullary infiltration by Gaucher cells. The diagnosis of the disease was confirmed by assay of acid beta-glucosidase. Genetic counseling was requested and imiglucerase therapy was started. Comments: This was the only documented case of Gaucher disease diagnosis in the General Hospital of Uberlândia Federal University, between 1999 and 2008, which assists a population of approximately 3 million people in 86 municipalities, indicating underdiagnosis of this inborn metabolic error. Thus, it is important to consider Gaucher disease as a differential diagnosis on patients with chronic anemia and splenomegaly during childhood.
CITATION STYLE
Ferreira, C. S., da Silva, L. R., Araújo, M. B. J., Tannús, R. K., & Aoqui, W. L. (2011). Doença de gaucher-uma desordem subdiagnosticada. Revista Paulista de Pediatria, 29(1), 122–125. https://doi.org/10.1590/S0103-05822011000100019
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