A Case of Gaucher's disease presenting as Hemolytic Anemia

Sunil Kumar Agarwalla, Associate Professor, Dept. of Paediatrics, M.K.C.G. Medical College, Berhampur, Odisha, India
2020 Journal of Medical Science And clinical Research  
Gaucher's disease is an autosomal recessive and most common lysosomal storage disease characterized by glycocerebrosidase deficiency. The overall incidence is approximately 1:60,000 individuals. It is a multisystem disorder due to accumulation of glucosylceramide in tissues and organs and the main clinical features are Splenomegaly, Hepatomegaly, bone marrow infiltration leading to anemia, thrombocytopenia and leucopenia, and skeletal involvement leading to bone pain and pathological fracture.
more » ... erum ßglucosidase levels confirms diagnosis, Enzyme replacement being the only definitive treatment. We report a 1.5 yr Fch, case of Gaucher's disease presenting as Congenital Hemolytic Anemia.
doi:10.18535/jmscr/v8i4.31 fatcat:7orlrk75lrdizcshzmqkq6fkdu