Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas

Here we report two unusual patients with Gaucher disease type I. Both girls admitted with hepatosplenomegaly, growth retardation, and anemia at four and 2.5 years of age, and Gaucher cells were seen on bone marrow aspirates. Thalassemic face was first noted at 8 and 11 years of age, respectively, with frontal bossing and maxillary hypertrophia. Although they had unconjugated hyperbilirubinemia, high reticulocytes, polychromasia, and normoblasts on peripheral smear, other laboratory tests for hemolytic disease were negative. Radiological examination revealed typical bone involvement of Gaucher disease, as well as costal enlargement and obliteration of paranasal sinuses, the latter two reported in hemolytic diseases. Cyanosis, digital clubbing and recurrent lung infections led to contrast echocardiography that revealed diffuse pulmonary arteriovenous shunting in both. Diagnosis was confirmed by low leukocyte beta glucosidase levels and mutations N370S7/L444P (Case 1) and N370S/? (Case 2). These features, all reported for the first time, may show a new clinical course in Gaucher disease.