CONGENITAL HYPERINSULINISM IN A BABY WITH COFS SYNDROME

Download full text PDF
Issue: 
8
Year: 
2016

Professor T. Taranushenko (1), MD; N. Kiseleva (1), Candidate of Medical Sciences; S. Ustinova (1), Candidate of Medical Sciences; O. Lazareva (2); L. Karpova (2), Candidate of Medical Sciences; N. Voronina (2) 1 -Prof. V.F. Voino-Yasenetsky Krasnoyarsk State Medical University 2 -Krasnoyarsk Territorial Clinical Center for Maternity and Infancy Care

The paper gives the data available in the literature on congenital hyperinsulinism and a clinical case of a male infant within the first 1 month of life with hyperinsulinism in the presence of hypertrophy of the islets of Langerhans and cerebro-oculo-facio-skeletal syndrome. It discusses the genetic and clinical aspects of the disease and laboratory and morphological changes.
Keywords: 
endocrinology
hypoglycemia
hyperinsulinism
hypertrophy of the islets of Langerhans
congenital malformations
infants

It appears your Web browser is not configured to display PDF files. Download adobe Acrobat или click here to download the PDF file.

References: 
  1. Melikjan M.A. Vrozhdennyj giperinsulinizm // Probl. endokrinol. – 2010; 6: 41–7.
  2. Melikjan M.A., Petrjajkina E.E., Fomina V.L. i dr. Vrozhdennyj gipe rinsulinizm: diagnostika i lechenie // Pediatrija. – 2011; 90 (1): 59–65.
  3. Diva D., De Leon D., Charles A. Stanley Mechanisms of Disease: advances in diagnosis and treatment of hyperinsulinism in neonates // Nature Clin. Pract. Endocrinol. Metab. – 2007; 3 (1): 57–68.
  4. Rukovodstvo po detskoj endokrinologii. Pod red. I.I. Dedova, V.A. Peterkovoj / M.: Universum Pablishing, 2006; 428–48.
  5. Rukovodstvo po detskoj endokrinologii. Pod red. Ch. Bruka, R. Braun. Per. s angl. Pod red. V.A. Peterkovoj / M.: GEOTAR-Media, 2009; 226–35.
  6. Del Bigio M., Greenberg C., Rorke L. et al. Neuropathological findings in eight children with Cerebro-oculo-facio-skeletal (COFS) syndrome // J. Neuropathol. Exp. Neurol. – 1997; 56 (10): 1147–57.
  7. Mathur N., Alwadhi R., Pankaj Garg. Cerebro-Oculo-Facio-Skeletal Syndrome in a Neonate // Indian Pediatrics. – 2002; 39: 761–3.
  8. Paladini D., Armeinto M., Ardonino I. et al. Prenatal diagnosis of the Cerebrooculo- facio-skeletal (COFS) syndrome // Ultrasound Obstet Gynecol. – 2000; 16: 91–3.
  9. Gubergrits N.B., Fomenko P.G., Kolkina V.Ja. Vneshnesekretornaja nedostatochnost' podzheludochnoj zhelezy pri saharnom diabete // Ros. zhurn.gastroenterol., gepatol., koloproktol. – 2009; 19 (5): 61–7.
  10. Von der Ohe M., Layer P., Wollny C. et al. Somatostatin 28 and coupling of human interdigestive intestinal motility and pancreatic secretion // Gastroenterology. – 1992; 103: 974–82.
  11. Ferrer R., Medrano J., Diego M. et al. Effect of exogenous insulin and glucagon on exocrine pancreatic secretion in rats in vivo // Int. J. Pancreatol. – 2000; 28: 67–75.