Revista Paulista de Pediatria
Print version ISSN 0103-0582
FERREIRA, Camila Simões et al. Gaucher Disease: an underdiagnosed disorder. Rev. paul. pediatr. [online]. 2011, vol.29, n.1, pp. 122-125. ISSN 0103-0582. http://dx.doi.org/10.1590/S0103-05822011000100019.
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.
Keywords : Gaucher disease; metabolism, inborn errors; anemia; splenomegaly; differential diagnosis.