Hyperinsulinism in syndromal disorders

Analysis of a German database comprising a total of 54 patients with neonat al manifestations of persistent hyperinsulinism revealed 5 patients in whom hyperinsulinism was associated with additional clinical symptoms, suggesti ng an underlying syndromal disorder. Three of the patients presented with a similar yet unknown clinical entity characterized by severe psychomotor re tardation, chronic pulmonary disease, hypothyroidism and congenital heart d efects. A fourth patient was affected by severe congenital central hypovent ilation syndrome. The fifth patient presented with Beckwith-Wiedemann syndr ome, with unusually severe and persistent hyperinsulinism requiring subtota l pancreatectomy. Conclusion: Our results indicate that, in addition to the well-known bioche mical pathways, more complex pathophysiological mechanisms can result in pe rsistent hyperinsulinism that presents clinically with a disease involving multiple organs.