Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome

Early-onset diabetes, liver dysfunction, growth retardation, spondyloepiphyseal dysplasia, and tendency to skeletal fractures due to osteopenia are characteristics of wolcott-rallison syndrome (wrs). eukaryotic translation initiation factor 2α kinase (eif2ak3) is the only known gene, which is responsible for this rare autosomal recessive disorder. here, we report two siblings a girl and a boy with diabetes mellitus (dm) who presented in one and two months of age respectively. recurrent self-limiting hepatitis developed later, and severe hepatic failure resulted in death of the first child. the second child visited was a 7.75 year old boy who had spondyloepiphyseal dysplasia and subclinical hypothyroidism besides dm and recurrent hepatitis. we suggested wrs for this patient, and it was confirmed by identification of a novel homozygous missense mutation (q166r) in exon 3 of the eif2ak3 gene. the aim of this report is to remind the possibility of wrs in isolated neonatal diabetes; while, the other clinical manifestations of this syndrome including its major symptom of recurrent hepatitis may appear later.