Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports OD01-OD02
Dr. Dolanchampa Modak,
Flat-A1, Park End Apartment, 4/1,Raj Kumar Chatterjee Road, Kolkata-70003, India.
E-mail : firstname.lastname@example.org
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid ÃŸ-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.