title: Rapid genetic analysis, imaging with 18F-DOPA-PET/CT scan and laparoscopic surgery in congenital hyperinsulinism.
abstract: Congenital hyperinsulinism (CHI) is responsible for profound hypoglycaemia which needs aggressive treatment in order to prevent neurological damage. Mutations in seven different genes have been held responsible for the inappropriate insulin secretion, typical of this condition. The most common cause of CHI is autosomal recessive mutations in the ABCC8 and KCNJ11 genes which encode for two subunits (SUR 1 and Kir6.2, respectively) of the pancreatic B-cell ATP-sensitive potassium channel. Furthermore, histopathological lesions, diffuse and focal, have been associated with different genetic alterations. [18F]Fluorodopa PET/CT imaging, in most cases, differentiates focal from diffuse disease and is 100% accurate in localizing the focal lesion. Recently laparoscopic pancreatectomy has been performed and is curative in the focal form. We report a case in which clinical experience together with rapid genetic analysis, imaging with 18F-DOPA-PET/CT and laparoscopic surgery, were able to guide the correct clinical management of this condition.
authors.affiliation: Maternal-infant Institute, Pediatric Endocrinology Centre, Polytechnic University of Marche, Ancona, Italy. v.cherubini@univpm.it
authors.forename: Valentino
authors.initials: V
authors.lastname: Cherubini
authors.forename: Lorenza Sylvia
authors.initials: LS
authors.lastname: Bagalini
authors.forename: Antonio
authors.initials: A
authors.lastname: Ianilli
authors.forename: Marco
authors.initials: M
authors.lastname: Marigliano
authors.forename: Martina
authors.initials: M
authors.lastname: Biagioni
authors.forename: Virgilio
authors.initials: V
authors.lastname: Carnielli
authors.forename: Vincenzio
authors.initials: V
authors.lastname: Iasonni
authors.forename: Alfonso
authors.initials: A
authors.lastname: Berbellini
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
authors.forename: Orazio
authors.initials: O
authors.lastname: Gabrielli
mesh_terms: D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D004295:Dihydroxyphenylalanine / Q000031:analogs & derivatives; D005260:Female; D005462:Fluorine Radioisotopes; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D010535:Laparoscopy; D049268:Positron-Emission Tomography; D014057:Tomography, X-Ray Computed
chemical_list: D005462:Fluorine Radioisotopes; C043437:fluorodopa F 18; D004295:Dihydroxyphenylalanine