WOLCOTT RALLISON SYNDROME- A CASE REPORT

Wolcott rallison syndrome (WRS) is a rare autosomal recessive disease first described in 1972(1). A mutation in eukaryotic initiation factor 2 alpha kinase3 (EIF2AK3) gene on chromosome 2p12 locus which codes translation initiation factor 2 alpha kinase has been identified with this syndrome(2). Here we report a girl who came to our hospital at 5 years of age with infantile onset diabetes mellitus, hypothyroidism,short stature, self-resolving hepatitis, and acute kidney injury. The diagnosis was confirmed by the presence of a homozygous mutation in the catalytic domain of EIF2AK3-PERK protein.