IJSR - International Journal of Scientific Research

John Vergilin; Febe Renjitha Suman; Leena Dennis Joseph; Dhaarini

Volume : IX, Issue : IV, April - 2020

BONE MARROW EXAMINATION IN GAUCHER'S DISEASE: A CASE REPORT IN A 1 YEAR OLD CHILD

John Vergilin, Febe Renjitha Suman, Leena Dennis Joseph, Dhaarini

Abstract :

Gaucher’s disease is an autosomal recessive lysosomal storage disorder due to defect in the gene GBA1, characterized by glucosylceramide accumulation in macrophages owing to the deficiency of glucocereosidase. These macrophage can infiltrate numerous organ and leads to multiorgan damage. Depending on the neuronal involvement Gaucher disease is classified in to three types. They are Type I(non–neuronopathic) and Type II and III(acute on chronic neuronopathic).The non–neuronopathic usually present with splenomegaly, henceforth evaluation of bone marrow in such cases clinch the diagnosis and helps in targeted treatment. Here we report one such a case with the complaints of anemia with splenomegaly was evaluated and diagnosed as Gaucher’s disease with the help of bone marrow examination.