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2. Rapid Genetic Analysis, Imaging with 18F-DOPA-PET/CT Scan and Laparoscopic Surgery in Congenital Hyperinsulinism.

Author

Cherubini, Valentino, Bagalini, Lorenza Sylvia, Ianilli, Antonio, Marigliano, Marco, Biagioni, Martina, Carnielli, Virgilio, Iasonni, Vincenzio, Berbellini, Alfonso, Hussain, Khalid, and Gabrielli, Orazio

Abstract

The article discusses the clinical management of a female patient who was diagnosed with severe hypoglycaemia due to congenital hyperinsulinism (CHI). Researchers determined that CHI is caused by recessive mutations in the ABCC8 and KCNJ11 genes, as well as, histopathological lesions. Procedures performed included a Fluorodopa positron emission tomography-computed tomography (PET/CT) scan to differentiate focal from diffused disease, a genetic study of the patient's family, and laparoscopic surgery.

Published
2010

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