Gauchers disease diagnostic value of bone marrow examination and genetic study
Journal Title: Journal of the Indian Medical Association - Year 2019, Vol 117, Issue 5
Abstract
Gaucher’s Disease is a rare Genetic Autosomal Recessive Lysosomal Storage disorder caused by inherited deficiency of acid-ß-Glycosidase (Glucocerebrocidase-GBA) which results in glycosphingolipid Glucosylceramide to accumulate within lysosomes of Macrophages12. Out of Three types of this disease type I is most common form of the disease and it does not involve CNS and can be present at Adulthood. In Present case 22 years old Female presented with weakness and abdominal fullness and pain. Hemogram shows Pancytopenia and USG revealed Hepatosplenomegaly. On Bone marrow examination Gaucher’s Cells found and Gaucher’s Disease (Type 1) diagnosis was made. Treatment of this disease is enzyme supplementation and Bone marrow transplantation.
Authors and Affiliations
Tushar Vithlani, Jiten Vadher, Ashish Sheth, Bhavya Vora
Keywords
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