title: Type 1 and type 3 Gaucher disease in two siblings in a family: 2 unusual case reports.
abstract: Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India. Around five hundred cases are identified and diagnosed in India. We are reporting two interesting cases of type 1 non-neuropathic and type 3 juvenile subacute neuropathic variant of adult Gaucher disease in two of three siblings in a family.
authors: Assistant Professor, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .
authors: Dolanchampa
authors: D
authors: Modak
authors: Post Graduate Trainee, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .
authors: Sasmit
authors: S
authors: Roy
authors: Assistant Professor, Department of Hematology and Transfusion Medicine, Institute of Hematology & Transfusion Medicine , Kolkata, India .
authors: Uttam
authors: U
authors: Nath
authors: Professor, Department of Tropical Medicine, School of Tropical Medicine , Kolkata, India .
authors: S K
authors: SK
authors: Guha
keywords: Gaucher disease; Glucocerebrosidase; Lysosomal storage disorder; Sibling