Wolcott Rallison Syndrome: A Rare Inherited Diabetes Mellitus
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Abstract
A 9-y-old boy was referred to authors’ institute for the management of insulin dependent diabetes mellitus. He was the product of third degree consanguineous marriage and was delivered by full term vaginal delivery with a birth weight of 2.75 kg. At 3 mo of age, he had presented with diabetic ketoacidosis and was on insulin regimen. Patient had delayed milestones and short stature. On follow up, child developed limb deformity and was diagnosed to have skeletal dysplasia. At the age of 9 y, patient was diagnosed to have cirrhosis of liver. Genetic analysis revealed homozygous EIF2AK3 nonsense mutation. It confirmed the diagnosis of Wolcott-Rallison syndrome. Patient’s mother was heterozygous for the same mutation.
Keywords
Neonatal diabetes mellitus Liver dysfunction Exocrine pancreatic deficiency Skeletal dysplasia Permanent non autoimmune diabetes mellitusNotes
Acknowledgments
The authors would like to thank Dr Andrew Hattersley, Professor of Molecular Medicine, Peninsula Medical School, Exeter & Wellcome Trust, for providing free genetic analysis of the WRS patient and his mother.
Contributions
SK: Diagnosis, management of the case and manuscript writing; MRG: Followup and manuscript writing; SB: Diagnosis and management of the case; TB and AL: Helped in diagnosis and manuscript writing; NS: Diagnosis of the patient, management of the case and will act as guarantor for this paper.
Conflict of Interest
None.
Role of Funding Source
None.
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