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- W2602069715 abstract "Gaucher’s disease an uncommon autosomal recessive sphingolipid lysosomal storage disease characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system from the deficient activity of the lysosomal hydrolase β-glucosidase( glucocerebrosidase). In the absence of enzyme, glucosylceramide accumulates in lysosomes of macrophages of tissues with multisystem organ involvement viz. liver, spleen, bone marrow, lungs and central nervous system.Serum β glucosidase levels <15% of mean normal activity confirms the diagnosis, enzyme replacement being the only definitive treatment. We report this case of 1 year 6 month male child who presented with delayed milestones, purpuric rashes and massive hepatosplenomegaly. Hematological workup revealed pancytopenia. Bone marrow study showed the characteristic gaucher cells and liver biopsy also showed evidence of Gauchers disease. Hence diagnosis of Type I (non-neuronopathic) Gaucher disease was given. With the advent of enzyme replacement therapy and substrate reduction therapy the natural history of the disease has been changed with a marked decrease in morbidity. The incidence of Type I Gaucher’s disease is 1 in 60,000 births but this non-neuronopathic type presenting with pancytopenia due to bone marrow involvement is rare entity with very few cases in India." @default.
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- W2602069715 date "2016-10-03" @default.
- W2602069715 modified "2023-09-25" @default.
- W2602069715 title "Type I (Non-neuronopathic) Gaucher’s disease with bone marrow involvement: a rare case report." @default.
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