Wolcott-Rallison Syndrome, a Rare Cause of Permanent Diabetes Mellitus in Infants-Case Report

Overview

Journal Pediatr Rep

Publisher MDPI

Specialty Pediatrics

Date 2023 Oct 24

PMID 37873802

Authors

Alexandru-Stefan Niculae

Claudia Bolba

Alina Grama

Alexandra Maris

Laura Bodea

Simona Cainap

Alexandra Mititelu

Otilia Fufezan

Tudor Lucian Pop

Affiliations

Soon will be listed here.

Abstract

Wolcott-Rallison syndrome is a rare cause of permanent neonatal diabetes mellitus caused by mutations in the eukaryotic translation initiation factor 2 alpha kinase 3 gene (EIF2AK3). Individuals affected by this disorder have severe hyperglycemia, pancreatic failure, and bone abnormalities and are prone to severe and life-threatening episodes of liver failure. This report illustrates the case of a 2-month-old infant with extreme hyperglycemia and severe diabetic ketoacidosis. Acute management was focused on correcting severe acidosis. Further management aimed to obtain stable blood glucose levels, balancing the patient's need for comfort and lack of distress with the clinicians' need for adequate information regarding the patient's glycemic control. Genetic testing of the patient and his parents confirmed the diagnosis. The follow-up for 18 months after diagnosis is detailed, illustrating both the therapeutic success of subcutaneous insulin therapy and the ongoing complications that patients with Wolcott-Rallison syndrome are subject to.

Citing Articles

Monogenic Defects of Beta Cell Function: From Clinical Suspicion to Genetic Diagnosis and Management of Rare Types of Diabetes.

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PMID: 39408828 PMC: 11476815. DOI: 10.3390/ijms251910501.

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