Step by step clinical diagnosis

ABSTRACT

A 49 years old man admitted in the emergency room with gingival hemorrhage. He was thrombocytopenic, had a huge splenomegaly, and a history of epistaxis. Huge splenomegaly has a large list of differential diagnosis [DDx] with infectious disease, Liver disease and cancers that we rolled out these DDx with step by step diagnosis. And finally we found hereditary Gucher's disease, in spite of his age [49yrs]. By the recurrent hemorrhage and severity of thrombocytopenia and leucopenia, spleenectomy was done and the patient discharged with good general appearance. Gaucher's disease should be considered in the differential diagnosis of patients with unexplained organomegaly, easy bruisability and/or bone pain. Bone marrow examination usually reveals the presence of Gaucher cells; however all suspected diagnoses should be confirmed by demonstrating deficient acid b-glucosidase activity in isolated leucocytes or cultured fibroblasts