Patient: Female, 38Final Diagnosis: Ketoacidosis, part of Wolcott Rallison syndromeSymptoms: Coma • dehydrationMedication: —Clinical Procedure: —Specialty: Endocrinology and Metabolic • PediatricsObjective:Rare diseaseBackground: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.
Excess serum growth hormone (GH) induces insulin resistance leading to reduced uptake of glucose in peripheral tissues, gluconeogenesis in the liver and lipolysis and finally an increase in the blood glucose levels. We report a case where a 54-year-old woman presented with uncontrolled blood glucose levels since 5 years. On examination, she had signs and symptoms consistent with acromegaly including recurrent headaches, sleep apnea, soft tissue swelling, enlargements of the feet, hands, ears and lips, mandibular overgrowth, forehead protrusio and teeth spacing. She was on oral hypoglycemic agents (OHAs) for 12 years before she visited our hospital, but the blood glucose levels have been uncontrolled for the past 5 years with recurrent hyperglycaemic and occasional hypoglycaemic events. She underwent pituitary surgery for GH producing tumor and 2 years post surgery, we had to stop all the medications for the diabetes mellitus. This indicates that even long-standing diabetes mellitus can resolve in some patients with acromegaly.
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