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Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave
Other Titles: 18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism
Authors: Arbizu, J. (J.)
Fernandez-Marmiesse, A. (A.)
Garrastachu, P. (P.)
Martino, E. (E.)
Azcona-San-Julian, M.C. (María Cristina)
Carracedo, A. (A.)
Richter, J.A. (José Ángel)
Keywords: Hyperinsulinism
Hypoglycaemia of infancy
ABCC8 and KCNJ11 genes
Issue Date: 2009
Publisher: Elsevier España
Publisher version: http://dx.doi.org/10.1157/13120046
ISSN: 1695-4033
Citation: Arbizu Lostao J, Fernandez-Marmiesse A, Garrastachu Zumarran P, Martino Casado E, Azcona San Julian C, Carracedo A, et al. Estudio PET-TC con 18F-fluoro-L-DOPA combinado con el análisis genético para la optimización de la clasificación y tratamiento de un niño con hiperinsulinismo congénito grave. An Pediatr (Barc) 2008 May;68(5):481-485.
Abstract
Abstract BACKGROUND: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infancy. The differential diagnosis between focal and diffuse forms of CHI is of great importance when planning surgery. The aim of this article is to show the first case of focal CHI diagnosed in Spain using PET-CT imaging combined with genetic analysis. METHODS: A 13 month child with CHI and normal conventional radiological investigations treated with diazoxide, diet control and feeding by gastrostomy is presented. Genetic analysis of ABCC8 and KCNJ11 genes and PET-TAC using 18F-fluoro-L-DOPA were performed. RESULTS: A pathological mutation (G111R) in the paternal allele of ABCC8 was detected. PET-CT scanning using 18F-fluoro-L-DOPA showed a focus of high uptake in the body of the pancreas compatible with adenoma that was hystopathologically confirmed. After surgical resection the patient is asymptomatic without needing either pharmacological treatment or dietetic control. CONCLUSIONS: The combination of genetic analysis and 18F-fluoro-L-DOPA PET-TAC shows a great potential for the identification, location and guideline for surgery in CHI.
Permanent link: http://hdl.handle.net/10171/22860
Appears in Collections:DA - Medicina - Medicina Nuclear - Artículos de revista
DA - Medicina - Pediatría - Artículos de revista
DA - CUN - Medicina nuclear - Artículos de revista
DA - CUN - Pediatría - Artículos de revista

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