title: [Congenital hyperinsulinism--diagnosis and treatment].
abstract: Congenital hyperinsulinism (CHI) is a rare and heterogeneous disease with a challenging diagnostic process and a need of individualised treatment of each patient. In severe, neonatal or infant CHI, differentiation between the focal and diffuse form by rapid genetics, 18F-fluoro-L-dihydroxyphenylalanine positron emission tomography/computed tomography and peroperative microscopy of frozen section allows surgeons to resect the focal lesion instead of performing subtotal pancreatectomy. Milder CHI, sometimes difficult to diagnose, is treated conservatively. In spite of all improvements, cerebral complications are still frequently seen.
authors: H.C. Andersen Børnehospital, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C, Denmark. henrik.christesen@ouh.regionsyddanmark.dk
authors: Henrik Thybo
authors: HT
authors: Christesen
authors: Maria Fuglsang
authors: MF
authors: Bruun
authors: Stine Hedegaard
authors: SH
authors: Christoffersen
authors: Lars
authors: L
authors: Rasmussen
authors: Henrik
authors: H
authors: Petersen
authors: Sönke
authors: S
authors: Detlefsen
authors: Claus Peter
authors: CP
authors: Hovendal
authors: Tom Giedsing
authors: TG
authors: Hansen
authors: Tine Plato
authors: TP
authors: Hansen
authors: Klaus
authors: K
authors: Brusgaard
mesh_terms: D044903:Congenital Hyperinsulinism / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype