Open AccessType 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports
Author(s) -
Dolanchampa Modak
Publication year - 2015
Publication title -
journal of clinical and diagnostic research
Language(s) - English
Resource type - Journals
eISSN - 2249-782X
pISSN - 0973-709X
DOI - 10.7860/jcdr/2015/8493.5507
Subject(s) - glucocerebrosidase , disease , medicine , gaucher's disease , pediatrics , juvenile , pathology , genetics , biology
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.