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Recurrent hepatitis in two iranian children: A novel (Q166R) mutation in EIF2AK3 leading to wolcott-rallison syndrome
Authors
A. Ahani
B. Behnam
M. Razzaghy Azar
M. Shakiba
Publication date
1 January 2013
Publisher
Abstract
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. © 2013, Kowsar Corp
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eprints Iran University of Medical Sciences
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oai:eprints.iums.ac.ir:9697
Last time updated on 10/10/2019