Limits...
A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

Brady C, Palladino AA, Gutmark-Little I - Int J Pediatr Endocrinol (2015)

Bottom Line: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia.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.

View Article: PubMed Central - PubMed

Affiliation: Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Ave, MLC 7012, Cincinnati, OH 45229 USA.

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.

No MeSH data available.


Related in: MedlinePlus

Results of F-Dopa PET Scan. This image demonstrates the results of our patient’s F-Dopa PET scan. The pancreas is circled in black. There is no evidence of focal tracer uptake on this image, suggesting diffuse disease. However the finding of diffuse uptake on F-Dopa PET scan does not exclude a focal lesion
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
getmorefigures.php?uid=PMC4502541&req=5

Fig1: Results of F-Dopa PET Scan. This image demonstrates the results of our patient’s F-Dopa PET scan. The pancreas is circled in black. There is no evidence of focal tracer uptake on this image, suggesting diffuse disease. However the finding of diffuse uptake on F-Dopa PET scan does not exclude a focal lesion

Mentions: Our patient was transferred to Children’s Hospital of Philadelphia for an 18-fluoro L-3, 4-dihydroxyphenylalanine positron emission tomography (18-F-DOPA-PET) scan. There was no focal uptake of isotope by the pancreas (Fig. 1), which suggested, but did not confirm diffuse disease. A pancreatic biopsy was subsequently recommended in order to further delineate her pathology, but was declined by the family. A gastrostomy tube was placed for enteral dextrose administration (overnight glucose infusion rate (GIR) of 7 mg/kg/min).Fig. 1


A novel case of compound heterozygous congenital hyperinsulinism without high insulin levels.

Brady C, Palladino AA, Gutmark-Little I - Int J Pediatr Endocrinol (2015)

Results of F-Dopa PET Scan. This image demonstrates the results of our patient’s F-Dopa PET scan. The pancreas is circled in black. There is no evidence of focal tracer uptake on this image, suggesting diffuse disease. However the finding of diffuse uptake on F-Dopa PET scan does not exclude a focal lesion
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4502541&req=5

Fig1: Results of F-Dopa PET Scan. This image demonstrates the results of our patient’s F-Dopa PET scan. The pancreas is circled in black. There is no evidence of focal tracer uptake on this image, suggesting diffuse disease. However the finding of diffuse uptake on F-Dopa PET scan does not exclude a focal lesion
Mentions: Our patient was transferred to Children’s Hospital of Philadelphia for an 18-fluoro L-3, 4-dihydroxyphenylalanine positron emission tomography (18-F-DOPA-PET) scan. There was no focal uptake of isotope by the pancreas (Fig. 1), which suggested, but did not confirm diffuse disease. A pancreatic biopsy was subsequently recommended in order to further delineate her pathology, but was declined by the family. A gastrostomy tube was placed for enteral dextrose administration (overnight glucose infusion rate (GIR) of 7 mg/kg/min).Fig. 1

Bottom Line: This patient initially presented at 11 months with seizure activity secondary to severe hypoglycemia.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.

View Article: PubMed Central - PubMed

Affiliation: Cincinnati Children's Hospital Medical Center, Division of Endocrinology, 3333 Burnet Ave, MLC 7012, Cincinnati, OH 45229 USA.

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.

No MeSH data available.


Related in: MedlinePlus