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Abstract

October - December 2021 | Vol. 14 | Issue 4 | 15-19
Gaucher Disease: A Case Series
Lalit Bharadia, Kusum Kalla, Vivek Jain
Department of Pediatrics, Santokba Durlabhji Memorial Hospital, Jaipur, Rajasthan, India
Address for Correspondence Email: lalitbharadia@gmail.com
 
Abstract
Gaucher disease (GD) is the commonest lysosomal storage disorder (LSD). We report a case series of GD from a single centre of North India. Over a 2-year period, 21 children referred with chronic splenohepatomegaly, after ruling out hemolysis and portal hypertension, were screened for GD. GD was diagnosed in 13 of them. Initial screening was done on a dried blood spot sample. Nine of them underwent molecular genetic testing and all 9 had the homozygous mutation c.1448 T>C; p.Leu483Pro (previously named as p.Leu444Pro).
 
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