Recurrent hepatitis in two iranian children: A novel (Q166R) mutation in EIF2AK3 leading to wolcott-rallison syndrome

Behnam, B. and Shakiba, M. and Ahani, A. and Razzaghy Azar, M. (2013) Recurrent hepatitis in two iranian children: A novel (Q166R) mutation in EIF2AK3 leading to wolcott-rallison syndrome. Hepatitis Monthly, 13 (6). pp. 1-6.


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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.

Item Type: Article
Additional Information: cited By 2
Uncontrolled Keywords: alpha 1 antitrypsin; isophane insulin; levothyroxine sodium; liver enzyme, anemia; article; bone dysplasia; case report; child; diabetes mellitus; EIF2AK3 gene; female; gene; hepatitis; hepatomegaly; human; hydrocortisone blood level; liver dysfunction; liver function; lymphocytosis; missense mutation; neutropenia; nucleotide sequence; preschool child; school child; sequence analysis; subclinical hypothyroidism; syndrome; viral upper respiratory tract infection; wolcott rallison syndrome
Subjects: QV Pharmacology
Depositing User: somayeh pourmorteza
Date Deposited: 14 May 2019 09:50
Last Modified: 14 May 2019 09:50

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