Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family:
2 Unusual Case Reports
Published: February 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.5507
Dolanchampa Modak, Sasmit Roy, Uttam Nath, S.K.Guha
1. Assistant Professor, Department of Tropical Medicine, School of Tropical Medicine, Kolkata, India.
2. Post Graduate Trainee, Department of Tropical Medicine, Schoolof Tropical Medicine, Kolkata, India.
3. Assistant Professor, Department of Hematology and Transfusion Medicine, Institute of Hematology & Transfusion Medicine, Kolkata, India.
4. Professor, Department of Tropical Medicine, School of Tropical Medicine, Kolkata, India.
Correspondence
Dr. Dolanchampa Modak,
Flat-A1, Park End Apartment, 4/1,Raj Kumar Chatterjee Road, Kolkata-70003, India.
E-mail : drdolanmodak@gmail.com
Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid ß-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.
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