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Title: CASE REPORT -PREGNANCY WITH GAUCHER?S DISEASE- A RARE METABOLIC DISORDER
e-poster Number: EP 165
Category: Maternal and Fetal Health
Author Name: Dr. Priti Vyas
Institute: SANGITA MATERNITY SURGICAL AND DIAGNOSTIC CENTRE
Co-Author Name:
Abstract :
30 year old primig with 6 wks gestation at routine anc came with massively spleenomagaly with severe anemia and pancytopenia. A complete haematological evaluation including bone marrow biopsy revealed Gaucher?s disease, a rare lysosomal storage autosomal recessive disorder. Pregnancy with Gaucher?s disease is at increased risk of spontaneous miscarriage, pancytopenia, postpartum haemorrhage and bone crisis. Our patient had pancytopenia and FGR. The treatment of choice in severe cases is enzyme replacement with algucerase, safety and efficacy in pregnancy is unknown. A Multidisciplinary team approach with timely interventions helped us to achieve a successful pregnancy with a healthy mother and baby.