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Wolcott-Rallison syndrome: a case series of three patients

INTRODUCTION: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initi...

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Autores principales: Memon, Fozia, Arif, Muzna, Kirmani, Salman, Humayun, Khadija N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214929/
https://www.ncbi.nlm.nih.gov/pubmed/36106422
http://dx.doi.org/10.5114/pedm.2022.118325
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author Memon, Fozia
Arif, Muzna
Kirmani, Salman
Humayun, Khadija N.
author_facet Memon, Fozia
Arif, Muzna
Kirmani, Salman
Humayun, Khadija N.
author_sort Memon, Fozia
collection PubMed
description INTRODUCTION: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation. CASE SERIES: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far. CONCLUSIONS: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis.
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spelling pubmed-102149292023-06-05 Wolcott-Rallison syndrome: a case series of three patients Memon, Fozia Arif, Muzna Kirmani, Salman Humayun, Khadija N. Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku INTRODUCTION: Neonatal diabetes is a rare disease with incidence estimated at 1 in 300,000 to 1 in 400,000 live births. Walcott-Rallison syndrome has been identified as the most common cause of permanent neonatal diabetes in consanguineous families caused by mutations in eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3), characterized by permanent neonatal diabetes associated with liver dysfunction, multiple epiphyseal dysplasia, and developmental delay. We herein report 3 cases of genetically proven Wolcott-Rallison syndrome with variable phenotype presentation. CASE SERIES: All cases presented with high glucose levels and were treated with insulin. EIF2AK3 homozygous mutation was identified in all 3 on genetic analysis. Initial screening testing for associated comorbidities was normal, including X-ray examination, which did not show any signs of epiphyseal dysplasia in all cases. Case 2 and case 3 were both lost to follow-up and were later found to have expired at the ages of 18 months and 2 years, respectively, due to liver failure associated with intercurrent respiratory illness in hospitals in their native towns. Case one is now 2 years old on regular follow-up in paediatric Endocrine and neurology clinics and doing well so far. CONCLUSIONS: Morbidity, as well as mortality, is high among children with WRS neonatal diabetes. It is crucial to screen for gene mutation in patients with diabetes diagnosed before 6 months. Close therapeutic monitoring is recommended in WRS because of the risk of acute episodes of hypoglycaemia and ketoacidosis. Termedia Publishing House 2022-09-14 2022-09 /pmc/articles/PMC10214929/ /pubmed/36106422 http://dx.doi.org/10.5114/pedm.2022.118325 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works.
spellingShingle Case report | Opis przypadku
Memon, Fozia
Arif, Muzna
Kirmani, Salman
Humayun, Khadija N.
Wolcott-Rallison syndrome: a case series of three patients
title Wolcott-Rallison syndrome: a case series of three patients
title_full Wolcott-Rallison syndrome: a case series of three patients
title_fullStr Wolcott-Rallison syndrome: a case series of three patients
title_full_unstemmed Wolcott-Rallison syndrome: a case series of three patients
title_short Wolcott-Rallison syndrome: a case series of three patients
title_sort wolcott-rallison syndrome: a case series of three patients
topic Case report | Opis przypadku
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10214929/
https://www.ncbi.nlm.nih.gov/pubmed/36106422
http://dx.doi.org/10.5114/pedm.2022.118325
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