A case report of EIF2AK3-related Wolcott-Rallison syndrome and literature review.
- Author:
Hui-Jie ZHANG
1
;
Shi-Biao WANG
;
Xiao-Feng GUO
;
Bin WENG
;
Ling LIN
;
Yan HAO
Author Information
1. Pediatric Intensive Care Unit, Fujian Provincial Maternity and Child Care Center Affiliated to Fujian Medical University, Fuzhou 350001, China. 197783836@qq.com.
- Publication Type:Case Reports
- MeSH:
Diabetes Mellitus, Type 1;
Epiphyses;
abnormalities;
Female;
Humans;
Infant;
Mutation;
Osteochondrodysplasias;
eIF-2 Kinase
- From:
Chinese Journal of Contemporary Pediatrics
2019;21(2):176-179
- CountryChina
- Language:Chinese
-
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 μIU/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.
