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.