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: enversimsek06@hotmail.com
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.