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[A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review].


ABSTRACT: The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 ?IU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including 49 known diabetes-related genes) showed that the EIF2AK3 gene in the infant had two novel compound heterozygous mutations, c.2731_2732delAG and c.2980G>A, both of which were located in the kinase domain. The infant was diagnosed with Wolcott-Rallison syndrome (WRS). As a rare autosomal recessive disease, WRS is characterized by neonatal diabetes, multiple epiphyseal dysphasia and liver disease. Neonatal diabetes is a prerequisite for the diagnosis of WRS. The EIF2AK3 gene is the pathogenic gene of WRS.

SUBMITTER: Zhang HJ 

PROVIDER: S-EPMC7389836 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature

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[A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review].

Zhang Hui-Jie HJ   Wang Shi-Biao SB   Guo Xiao-Feng XF   Weng Bin B   Lin Ling L   Hao Yan Y  

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 20190201 2


The patient was a female infant aged 1 month and 29 days. She was admitted to the hospital due to convulsions for 6 days and increased blood glucose level for 5 days. She had unstable blood glucose levels. The level of glycosylated hemoglobin was too high to measure. Urine glucose was positive (+ - ++++). The levels of fasting C-peptide and insulin were 0.19 ng/mL and 11.68 μIU/mL respectively. High-throughput sequencing of the genetic endocrine disease gene Panel (412 detected genes, including  ...[more]

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