title: [18F-fluoro-L-DOPA PET-CT imaging combined with genetic analysis for optimal classification and treatment in a child with severe congenital hyperinsulinism].
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.
authors.affiliation: Servicio de Medicina Nuclear, Clínica Universitaria de Navarra, Facultad de Medicina, Universidad de Navarra, Pamplona, España. jarbizu@unav.es
authors.forename: J
authors.initials: J
authors.lastname: Arbizu Lostao
authors.forename: A
authors.initials: A
authors.lastname: Fernández-Marmiesse
authors.forename: P
authors.initials: P
authors.lastname: Garrastachu Zumarrán
authors.forename: E
authors.initials: E
authors.lastname: Martino Casado
authors.forename: C
authors.initials: C
authors.lastname: Azcona San Julián
authors.forename: A
authors.initials: A
authors.lastname: Carracedo
authors.forename: J A
authors.initials: JA
authors.lastname: Richter Echevarría
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics; D044903:Congenital Hyperinsulinism / Q000145:classification / Q000175:diagnosis / Q000235:genetics; D004252:DNA Mutational Analysis; D004295:Dihydroxyphenylalanine; D019788:Fluorodeoxyglucose F18; D013006:Growth Hormone / Q000031:analogs & derivatives / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D010179:Pancreas / Q000000981:diagnostic imaging*; D017354:Point Mutation; D049268:Positron-Emission Tomography; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics; D019275:Radiopharmaceuticals; D011955:Receptors, Drug / Q000235:genetics; D012720:Severity of Illness Index; D064233:Sulfonylurea Receptors; D014057:Tomography, X-Ray Computed
chemical_list: D018528:ATP-Binding Cassette Transporters; C095717:G119R protein, human; D024661:Potassium Channels, Inwardly Rectifying; D019275:Radiopharmaceuticals; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors; D019788:Fluorodeoxyglucose F18; D004295:Dihydroxyphenylalanine; D013006:Growth Hormone