[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism].
Diliara GubaevaM A MelikyanD V RyzhkovaM D PoydaV G BairovA A SukhotskayaYu Yu SokolovA M EfremenkovLubov B MitrofanovaHenrik Boye Thybo ChristesenIrina L NikitinaPublished in: Problemy endokrinologii (2019)
The focal form of CHI is a severe condition with high prevalence of neurological complications. For preoperative diagnosis of the morphological form of the disease, it is necessary to conduct genetic analysis and radionuclide studies. Solely evaluation of mathematical parameters in 18F-DOPA PET without taking into account the visual data and the results of genetic analysis does not allow establishing the robust diagnosis. Timely diagnosis, identification of risk factors, and prevention of complications of persistent hypoglycemia are important tasks for clinicians.