The Turkish Journal of Pediatrics 2013 , Vol 55 , Num 6
Congenital hyperinsulinism presenting with different clinical, biochemical and molecular genetic spectra
1Division of Pediatric Endocrinology, Department of Pediatrics and 4Department of Pathology, Osmangazi University Faculty of Medicine, Eskişehir, Turkey, and 2Institute of Biomedical and Clinical Science, University of Exeter Peninsula Medical School, Exeter and 3Department of Endocrinology, Great Ormond Street Hospital for Children NHS Trust and the Institute of Child Health, University College London, London, United Kingdom. E-mail: Congenital hyperinsulinism (CHI) is a common cause of hypoglycemia in infants. We report three cases of CHI with differing clinical, biochemical, and molecular genetic spectra. One patient was unresponsive to medical treatment and died after subtotal pancreatectomy because of complications due to the surgery. Two patients have been followed successfully with medical treatment. Early diagnosis and appropriate treatment of CHI are essential to prevent morbidity and mortality. Keywords : congenital hyperinsulinism, clinical spectrum, histopathology, treatment.
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