Title |
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels
|
---|---|
Published in |
International Journal of Pediatric Endocrinology, July 2015
|
DOI | 10.1186/s13633-015-0012-4 |
Pubmed ID | |
Authors |
Cassandra Brady, Andrew A. Palladino, Iris Gutmark-Little |
Abstract |
Congenital hyperinsulinism leads to unregulated insulin secretion and hypoglycemia. Diagnosis can be difficult and genetic testing may be warranted. 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. 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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 8% |
Unknown | 11 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 33% |
Other | 1 | 8% |
Student > Doctoral Student | 1 | 8% |
Professor | 1 | 8% |
Student > Bachelor | 1 | 8% |
Other | 2 | 17% |
Unknown | 2 | 17% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 67% |
Agricultural and Biological Sciences | 1 | 8% |
Biochemistry, Genetics and Molecular Biology | 1 | 8% |
Unknown | 2 | 17% |