RESUMO
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.
Assuntos
Hiperinsulinismo Congênito , Di-Hidroxifenilalanina , Fluordesoxiglucose F18 , Pâncreas/diagnóstico por imagem , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos , Tomografia Computadorizada por Raios X , Transportadores de Cassetes de Ligação de ATP/genética , Hiperinsulinismo Congênito/classificação , Hiperinsulinismo Congênito/diagnóstico , Hiperinsulinismo Congênito/genética , Análise Mutacional de DNA , Hormônio do Crescimento/análogos & derivados , Hormônio do Crescimento/genética , Humanos , Lactente , Masculino , Mutação Puntual , Canais de Potássio Corretores do Fluxo de Internalização/genética , Receptores de Droga/genética , Índice de Gravidade de Doença , Receptores de SulfonilureiasRESUMO
This article details the high technology equipment in Spain obtained through a survey sent to the three main provider companies of equipment installed in Spain. The geographical distribution of high technology by Autonomous Communities and its antiquity have been analyzed.