title: Hyperinsulinism in syndromal disorders.
abstract: Analysis of a German database comprising a total of 54 patients with neonatal manifestations of persistent hyperinsulinism revealed 5 patients in whom hyperinsulinism was associated with additional clinical symptoms, suggesting an underlying syndromal disorder. Three of the patients presented with a similar yet unknown clinical entity characterized by severe psychomotor retardation, chronic pulmonary disease, hypothyroidism and congenital heart defects. A fourth patient was affected by severe congenital central hypoventilation syndrome. The fifth patient presented with Beckwith-Wiedemann syndrome, with unusually severe and persistent hyperinsulinism requiring subtotal pancreatectomy.
  
  
  CONCLUSIONS
  Our results indicate that, in addition to the well-known biochemical pathways, more complex pathophysiological mechanisms can result in persistent hyperinsulinism that presents clinically with a disease involving multiple organs.
authors.affiliation: Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
authors.forename: T
authors.initials: T
authors.lastname: Meissner
authors.forename: W
authors.initials: W
authors.lastname: Rabl
authors.forename: K
authors.initials: K
authors.lastname: Mohnike
authors.forename: S
authors.initials: S
authors.lastname: Scholl
authors.forename: R
authors.initials: R
authors.lastname: Santer
authors.forename: E
authors.initials: E
authors.lastname: Mayatepek
mesh_terms: D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000188:drug therapy / Q000209:etiology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome