Abstract

MARTINS, Esmeralda; CUNHA, Joaquim  and  BANDEIRA, Anabela. Genes, crianças e pediatras. Nascer e Crescer [online]. 2014, vol.23, n.4, pp.225-226. ISSN 0872-0754.

The authors present the clinical case of an eight-year old girl presenting pain in the left thigh that awoke her and claudication. The abdominal palpation evidenced hepatoesplenomegaly. Analytically: normocromica and normocitica anemia, thrombocytopenia and increased sedimentation rate. The coxo femoral joint x-ray was normal and the abdominal ultrasound confirmed the hepatoesplenomegaly. Bone marrow examination revealed the presence of great neutrophils with mesenchymal aspect, deviated nucleus and wrinkled cytoplasm. Magnetic resonance imaging of the hip showed an aseptic necrosis of the head of left femur. The measurement of glucocerebrosidase activity in peripheral blood leukocytes confirmed Gaucher disease.

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