217 Hyperosmolar hyperglycemic state in a 7-year-old boy with newly diagnosed type 1 diabetes mellitus

Hyperglycemic hyperosmolar state (HHS) is characterized by severe hyperglycemia and hyperosmolality without significant ketosis and acidosis. Although the incidence of HHS is increasing, it is considerably less frequent in children than diabetic ketoacidosis (DKA). We report a rare case of HHS as the first presentation of type 1 diabetes mellitus (T1DM) in a 7-year-old boy with previously diagnosed Joubert syndrome (JS). He presented to the emergency room with a 3-day history of vomiting. The symptoms of polydipsia and polyuria started several days earlier. On the day of admission he had been drinking an excess of beverages rich in sugars (approximately 800 -900 ml/day). At admission he was tachypnoic, normotensive and moderately dehydrated. It was difficult to assess his mental and neurological status because of JS, but his mother claimed that he was acting normally. Initial biochemistry results demonstrated severe hyperglycemia (115 mmol/l), hyperosmolality of 382 mOsm/kg (effective osmolality 353 mOsm/kg), mild acidosis (venous pH 7.31), hyponatremia (sodium 119 mmol/l; corrected for blood glucose: 138 mmol/L), severe glycosuria, and ketones in urine were negative. The diagnosis of HHS was made and the treatment with intravenous fluid was started and insulin administration begun later. Serum glucose level normalized 20 hours after treatment started. The diagnosis of T1DM was made based on elevated blood antibodies against islet cells (ICA) and islet antigen 2 (IA-2) antibodies. He was discharged after 10 days without any complications related to HHS and is being regularly followed up. Since HHS has high mortality rate, early recognition and proper management are necessary for a better outcome.