WOLCOTT–RALLISON SYNDROME: RAISING AWARENESS TODAY FOR BETTER CARE TOMORROW – A CASE REPORT

Wolcott–Rallison syndrome is a rare inherited disorder characterized mainly by permanent neonatal diabetes mellitus and multisystem complications. It is commonly associated with mutations in the Eif2AK3 gene and is inherited in an autosomal recessive manner. A 2year-old male child presented with poor feeding, excessive thirst, frequent urination, recurrent fever, vomiting, poor weight gain, and dehydration. Investigations revealed persistent hyperglycemia, elevated liver enzymes, and features suggestive of skeletal abnormalities. The child was managed with insulin therapy, fluid and electrolyte management, nutritional support, monitoring of liver function, and supportive care. Nursing management focused on blood glucose monitoring, hydration, nutrition, prevention of complications, growth monitoring, medication administration, and parental education. Early diagnosis and multidisciplinary management are important to improve outcomes and quality of life in children with Wolcott–Rallison syndrome.

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Publication Details

Journal
Zenodo (CERN European Organization for Nuclear Research)
Published
2026-10-26
DOI
https://doi.org/10.5281/zenodo.23663093
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

WOLCOTT–RALLISON SYNDROME: RAISING AWARENESS TODAY FOR BETTER CARE TOMORROW – A CASE REPORT

Sheeba Anitha Rani, Yerni Jyothi Kolli, Prathima Prakasam, Devi Prasan Kar
Zenodo (CERN European Organization for Nuclear Research)
Metabolism and Genetic Disorders
article

WOLCOTT–RALLISON SYNDROME: RAISING AWARENESS TODAY FOR BETTER CARE TOMORROW – A CASE REPORT

Sheeba Anitha Rani, Yerni Jyothi Kolli, Prathima Prakasam, Devi Prasan Kar
article en

Abstract

Wolcott–Rallison syndrome is a rare inherited disorder characterized mainly by permanent neonatal diabetes mellitus and multisystem complications. It is commonly associated with mutations in the Eif2AK3 gene and is inherited in an autosomal recessive manner. A 2year-old male child presented with poor feeding, excessive thirst, frequent urination, recurrent fever, vomiting, poor weight gain, and dehydration. Investigations revealed persistent hyperglycemia, elevated liver enzymes, and features suggestive of skeletal abnormalities. The child was managed with insulin therapy, fluid and electrolyte management, nutritional support, monitoring of liver function, and supportive care. Nursing management focused on blood glucose monitoring, hydration, nutrition, prevention of complications, growth monitoring, medication administration, and parental education. Early diagnosis and multidisciplinary management are important to improve outcomes and quality of life in children with Wolcott–Rallison syndrome.

Zenodo (CERN European Organization for Nuclear Research)
Sri Sri University (IN)
Openalex Percentile: Top 14%
Metabolism and Genetic Disorders
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