Wolcott-Rallison syndrome due to a novel mutation (R491X) in EIF2AK3 gene

Wolcott-rallison syndrome (wrs) is a rare autosomal recessive disorder characterized by early-onset diabetes,spondyloepiphyseal dysplasia,tendency to skeletal fractures secondary to osteopenia,and growth retardation. mutations in the eukaryotic translation initiation factor 2α kinase (eif2ak3) gene are responsible for this disorder. here,we describe a boy with neonatal diabetes,diagnosed at 2 months of age,who developed severe growth retardation and a skeletal fracture during the follow-up period. the patient's skeletal x-ray revealed findings of skeletal dysplasia. a clinical diagnosis of wrs was confirmed by the identification of a novel homozygous nonsense mutation (r491x) in exon 9 of the eif2ak3 gene. the aim of this report is to raise the awareness for wolcott-rallison syndrome in cases presenting with isolated neonatal diabetes. this patient demonstrates that the other findings of this syndrome might be obscured by a diagnosis of isolated neonatal diabetes. ©journal of clinical research in pediatric endocrinology,published by galenos publishing.