A Newborn with Congenital Hyperinsulinism having a Novel Homozygous Mutation in the ABCC8 Gene
Abstract: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in newborns and infants. It is characterized by the unregulated secretion of insulin from pancreatic B- cells in relation to blood glucose concentration. We reported the case of full term, appropriate for gestational age newborn suffered from CHI and developed severe and persistent hypoglycemia which unresponsive to medical treatments including diazoxide, octreotide, Nifedipine. Somatostatin receptor PET -CT, Addendum to 68Ga Dotatate PET -CT scan showed mild diffuse somatostatin receptor expression is seen in the entire pancreas and focal increased uptake in liver segment IVb and V. The patient was confirmed to have a novel ABCC8 homozygous mutation at c.1335_1364del position.
Keywords: ABCC8, Novel mutation, Refractory hypoglycemia, congenital hyperinsulinism, Octreotide
How to Cite?: Pritesh Patel, Pooja Patel, Sachin Shah, "A Newborn with Congenital Hyperinsulinism having a Novel Homozygous Mutation in the ABCC8 Gene", Volume 5 Issue 8, August 2016, International Journal of Science and Research (IJSR), Pages: 894-896, https://www.ijsr.net/getabstract.php?paperid=ART20161008, DOI: https://dx.doi.org/10.21275/ART20161008