Abstract
Background. A 17-year-old female was referred for the reassessment of her type 1 diabetes mellitus, with which she had been diagnosed at the age of 15 weeks owing to symptoms of ketoacidosis. The patient had mild learning difficulties, which resulted in her requiring additional support at school. There was no family history of diabetes.
Investigations. Measurements of plasma C-peptide and glutamate decarboxylase autoantibodies. Molecular genetic testing was performed.
Diagnosis. Intermediate developmental delay, epilepsy and neonatal diabetes mellitus (DEND) syndrome as a result of a 59V>M Kir6.2 mutation.
Management. Treatment with high-dose oral glibenclamide replaced insulin treatment. Good glycemic control was achieved with levels of HbA1c consistently below 6.5% and no hypoglycemia.
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Acknowledgements
Written consent for publication was obtained from the patient. Charles P. Vega, University of California, Irvine, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the MedscapeCME-accredited continuing medical education activity associated with this article.
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Jones, A., Hattersley, A. Reevaluation of a case of type 1 diabetes mellitus diagnosed before 6 months of age. Nat Rev Endocrinol 6, 347–351 (2010). https://doi.org/10.1038/nrendo.2010.42
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DOI: https://doi.org/10.1038/nrendo.2010.42
