Congenital Hyperinsulinism in a Newborn With a Novel Homozygous Mutation (p.Q392H) in the ABCC8 Gene

J Pediatr Endocrinol Metab. 2014 Nov;27(11-12):1253-5. doi: 10.1515/jpem-2014-0072.

Abstract

Congenital hyperinsulinism is the most frequent cause of persistent hypoglycemia in infancy. We present the case of a preterm, large-for-gestation-age infant with congenital hyperinsulinism who was found to have a novel p.Q392H homozygous mutation in the ABCC8 gene. The patient had severe brain damage, despite early diagnosis and appropriate management. The new mutations may provide an understanding of the prognosis and treatment of the disease. In addition, the data will help the family make informed decisions about future pregnancies.

Publication types

  • Case Reports

MeSH terms

  • Congenital Hyperinsulinism / genetics*
  • Congenital Hyperinsulinism / pathology
  • Fetal Macrosomia / genetics*
  • Fetal Macrosomia / pathology
  • Homozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Sulfonylurea Receptors / genetics*

Substances

  • ABCC8 protein, human
  • Sulfonylurea Receptors