27 June 2017 : Case report
Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)Poorna Gopal Azad Sreeramaneni1ABCDEFG*, Subba Rao V. Ambula2ABD
Am J Case Rep 2017; 18:719-722
BACKGROUND: Neonatal diabetes mellitus is a rare condition and it is important to differentiate it from other causes, such as hyperglycemia in infancy, for better outcomes. We report a case of an infant who presented to our neonatal intensive care unit in ketoacidosis and a comatose state.
CASE REPORT: Our case was an infant who presented to the neonatal intensive care unit at 38 days of age in ketoacidosis. The female infant, born to consanguineous parents (first cousins), weighing 2,300 grams at birth, presented with extreme dehydration and pale skin. The infant’s head was normocephalic and there were no obvious deformities on the rest of her body. Urine examination was positive for ketones and glucose was 4+. Her blood glucose level was 550 mg/dL (30.5 mmol/L). After taking care of electrolytes, insulin was initiated in the form of a continuous drip. After a few days, insulin glargine was initiated, given twice daily via subcutaneous route. A few days later, blood samples were sent from our hospital in India to the UK and genetic testing was performed free of charge by the Department of Molecular Genetics, University of Exeter Medical School, UK, and confirmed a genetic diagnosis of Wolcott-Rallison syndrome.
CONCLUSIONS: Regardless of whether permanent neonatal diabetes mellitus is associated with Wolcott-Rallison syndrome or other genetic mutations, it is important to initially stabilize the infant and later do a genetic testing to see whether the infant can be given oral sulfonylureas or has to be given insulin therapy.
Keywords: Diabetic Coma, Diabetic Ketoacidosis, Mutation, Missense
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