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CC BY-NC-ND 4.0 · World J Nucl Med 2021; 20(04): 395-397
DOI: 10.4103/wjnm.wjnm_159_20
Case Report

Early diagnosis of focal congenital hyperinsulinism: A fluorine-18-labeled l-dihydroxyphenylalanine positron emission tomography/computed tomography study

Luca Burroni
Department of Nuclear Medicine, Ospedali Riuniti Hospital, Ancona, Italy
,
Andrea Palucci
Department of Nuclear Medicine, Ospedali Riuniti Hospital, Ancona, Italy
,
Giuseppina Biscontini
Department of Nuclear Medicine, Ospedali Riuniti Hospital, Ancona, Italy
,
Valentino Cherubini
1   Department of Woman's and Children's Health, Pediatric Endocrinology and Diabetology Unit, Ospedali Riuniti Hospital, Ancona, Italy
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Abstract

Congenital hyperinsulinism (CHI) is responsible for hyperinsulinemic hypoglycemia which needs aggressive treatment in order to prevent neurological damages. Recent advances in genetics have linked CHI to mutations in many different genes that play a key role in regulating insulin secretion from pancreatic β-cells. Furthermore, histopathological lesions, diffuse and focal, have been associated with these different genetic alterations. This short manuscript describes how the advent of fluorine-18-labeled L-dihydroxyphenylalanine-positron emission tomography/computed tomography (18F-DOPA-PET/CT) scanning has changed the management of patients with CHI. 18F-DOPA PET/CT imaging differentiates focal from diffuse disease and is 100% accurate in localizing the focal lesion. In these patients, the lesion can be surgically removed allowing complete resolution of clinical alterations. We report a case in which clinical experience together with rapid genetic analysis and imaging with 18F-DOPA-PET/CT, were able to guide the correct clinical management of this condition. We confirm that advances in molecular genetics, imaging methods (18F-DOPA PET-CT), medical therapy, and surgical approach have completely changed the management and improved the outcome of these children.

Keywords

Fluorine-18-labeled L-dihydroxyphenylalanine - focal congenital hyperinsulinism - hypoglycemia - pancreatectomy

Financial support and sponsorship

Nil.




Publication History

Received: 04 April 2021

Accepted: 03 May 2021

Article published online:
24 March 2022

© 2021. Sociedade Brasileira de Neurocirurgia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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