Wolcott-Rallison Syndrome

Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by early-infancy onset neonatal diabetes mellitus, epiphyseal dysplasia, and other multisystemic clinical manifestations. Mutations in the eukaryotic translation initiation factor 2? kinase (EIF2AK3) gene are responsible for this disorder. Here, we described a girl with neonatal diabetes diagnosed at 4 months of age, who developed severe growth retardation with epiphyseal dysplasia during the follow-up period. A clinical diagnosis of WRS was confirmed by the identification of a novel homozygous nonsense mutation (p.Q333*) in exon 5 of the EIF2AK3 gene in the consanguineous family. The clinical phenotype associated with the syndrome can be variable, but a combination of infancy-onset diabetes mellitus, multiple epiphyseal dysplasia, and hepatic and/or renal failure is the basis of diagnosis.