Behnam Babak, Shakiba Marjan, Ahani Ali, Razzaghy Azar Maryam
Cellular and Molecular Research Center, Iran University of Medical Sciences, Tehran, IR Iran ; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, IR Iran ; Ali-Asghar Children Hospital, Iran University of Medical Sciences, Tehran, IR Iran.
Hepat Mon. 2013 Jun 9;13(6):e10124. doi: 10.5812/hepatmon.10124. eCollection 2013.
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.
早发型糖尿病、肝功能障碍、生长发育迟缓、脊椎骨骺发育不良以及因骨质减少导致的骨骼骨折倾向是沃科特-拉利森综合征（WRS）的特征。真核生物翻译起始因子2α激酶（EIF2AK3）是已知的唯一与这种罕见的常染色体隐性疾病相关的基因。在此，我们报告一对分别在1个月和2个月大时出现糖尿病（DM）的姐弟。随后出现反复的自限性肝炎，严重肝功能衰竭导致第一个孩子死亡。第二个前来就诊的孩子是一名7.75岁男孩，除糖尿病和反复肝炎外，还患有脊椎骨骺发育不良和亚临床甲状腺功能减退。我们怀疑该患者患有WRS，并通过在EIF2AK3基因第3外显子中鉴定出一种新的纯合错义突变（Q166R）得以证实。本报告的目的是提醒人们注意孤立性新生儿糖尿病患者存在WRS的可能性；同时，该综合征的其他临床表现包括其主要症状反复肝炎可能在后期出现。
