The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome

Highlights• Here, we report case of a 12-year-old girl diagnosed with maturity-onset diabetes of the young type 5 5) who presented with hyperosmolar diabetic ketoacidosis followed by acute complications such as thrombocytopenia-associated multiple organ failure, cerebral microbleeds, and diabetic amyotrophy.To the editor, Hyperosmolar diabetic ketoacidosis (HODKA) is a severe acute complication of diabetes mellitus (DM) and the leading cause of death in children and adolescents with DM.An 11-year-old girl with a loss of consciousness visited the emergency room.She had shown typical hyperglycemic symptoms (polydipsia, polyuria, hyperphagia, and 16% weight loss) for 20 days.Her father had history of type 2 DM.The patient was born as a term baby of 3,200 g through vaginal delivery without perinatal problems.On admission, her height was 140.0 cm (4.7th percentile), and her weight was 30.0 kg (2.4th percentile).She had a semicomatose mentality (Glasgow Coma Scale 6), hemodynamic shock, and an early stage of severe coccygeal sore and ecchymosis on both legs.Her plasma glucose level was 501 mg/dL, glycosylated hemoglobin 15.4%, serum osmolality 336 mOsm/kg, Na/K/ Cl 139/2.4/120mmol/L, blood urea nitrogen/creatinine 47.6/1.88,Ca/P/Mg 7.1/7.4/1.5 mg/ dL, aspartate aminotransferase/alanine aminotransferase 146/41 IU/L, creatine kinase (CK) 8,478 U/L (reference, 0-190 U/L), CK muscle brain 101.3 ng/mL (reference, 0-3.6 ng/mL), high sensitivity troponin I 3,986.94pg/mL (reference, 0-11.6 pg/mL), myoglobin >3,909.0ng/ mL (reference, 12-80 ng/mL), brain natriuretic peptide 1,845 pg/mL (reference, 0-100 pg/mL), prothrombin time/activated partial thromboplastin time 16.2/48.6seconds (reference, 12.7-16.1/33.9-46.1 seconds), fibrinogen 267 mg/dL (reference, 200-400 mg/dL), AT III activity 39% (reference, 80-120), D dimer 2.95 µg/mL (reference, <0.5 µg/mL), fibrin degradation product 11.82 µg/mL (reference, <5 µg/mL), and platelets 65,000/µL.An arterial blood gas analysis showed pH 6.86, pCO 2 66 mmHg, bicarbonate 11.8 mM, and base excess -20.7.In the subsequent test results, plasma c-peptide was 0.442 ng/mL, 24-hour urine c-peptide was 2.264 µg/day, anti-glutamic acid decarboxylase antibody was 83.62 U/mL (reference, <1.00 U/ mL), and urine glucose/ketone/protein was 2+/-/2+.a disintegrin and metalloproteinase with thrombospondin type 1 motif 13 (ADAMTS-13) activity was 48% (reference, 50%-1,160%), and von Willebrand factor (vWF) antigen was 182.2% (reference, 52.2%-177.9%).She was initially diagnosed with type 1 DM and HODKA.She required mechanical ventilation and had complications of thrombocytopenia-associated multiple organ failure (TAMOF), rhabdomyolysis, and coccygeal sores.She could not stand alone, and she complained of severe pain in her left hip with passive range of motion.Computed tomography and venography of the lower extremities showed noThe first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome