Smriti Bansal*, Nishi Gupta, Sima Das

Wolcott-Rallison syndrome (WRS) is an autosomal recessive disorder characterized by early-onset diabetes, skeletal dysplasia, and growth retardation1. Some patients of WRS may develop central hypothyroidism, hepatic dysfunction, renal insufficiency or central nervous system abnormalities 2,3. This is a very rare disorder and, less than 100 cases have been described till 2009 4. Mutations in the eukaryotic translation initiation factor 2α kinase (EIF2AK3) gene are responsible for this disorder5. We hereby report a case of Wolcott-Rallison syndrome caused by a novel mutation in EIF2AK3 gene