A Novel Case of Compound Heterozygous Congenital Hyperinsulinism Without High Insulin Levels

Overview

Journal Int J Pediatr Endocrinol

Publisher Biomed Central

Specialty Pediatrics

Date 2015 Jul 17

PMID 26180531

Citations 4

Authors

Cassandra Brady

Andrew A Palladino

Iris Gutmark-Little

Affiliations

Soon will be listed here.

Abstract

Background: Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted.

Case: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia. Her diagnostic evaluation included genetic studies, which confirmed congenital hyperinsulinism. A novel combination of mutations in the ABCC8 gene leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism was identified. Mutation analysis of ABCC8 showed three variants (R1215W - paternal, pathogenic; W739C - maternal, variant of unknown significance; R1393L - maternal, variant of unknown significance). Her clinical course continues to be complicated by severe, refractory hypoglycemia at age 3 years.

Conclusion: We describe a novel compound heterozygous mutation leading to diffuse, diazoxide-unresponsive congenital hyperinsulinism. This case illustrates challenges associated with diagnosing and managing congenital hyperinsulinism and the importance of genetic testing.

Citing Articles

Novel Compound Heterozygous Variants of the Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.

Al Balwi R, Bubshait D, Al Nefily R, Al Ghamdi O Children (Basel). 2021; 8(10).

PMID: 34682101 PMC: 8534644. DOI: 10.3390/children8100836.

Congenital Hyperinsulinism: Diagnosis and Treatment Update.

Demirbilek H, Hussain K J Clin Res Pediatr Endocrinol. 2017; 9(Suppl 2):69-87.

PMID: 29280746 PMC: 5790328. DOI: 10.4274/jcrpe.2017.S007.

Pancreatic uptake and radiation dosimetry of 6-[18F]fluoro-L-DOPA from PET imaging studies in infants with congenital hyperinsulinism.

Garg P, Lokitz S, Truong L, Putegnat B, Reynolds C, Rodriguez L PLoS One. 2017; 12(11):e0186340.

PMID: 29117181 PMC: 5695579. DOI: 10.1371/journal.pone.0186340.

Clinical practice guidelines for congenital hyperinsulinism.

Yorifuji T, Horikawa R, Hasegawa T, Adachi M, Soneda S, Minagawa M Clin Pediatr Endocrinol. 2017; 26(3):127-152.

PMID: 28804205 PMC: 5537210. DOI: 10.1297/cpe.26.127.

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