Hyperinsulinism in syndromal disorders.
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.
Meissner
T
T
Division of Metabolic and Endocrine Diseases, University Children's Hospital, Heidelberg, Germany.
Rabl
W
W
Mohnike
K
K
Scholl
S
S
Santer
R
R
Mayatepek
E
E
D005260:Female; D006801:Humans; D006946:Hyperinsulinism / Q000188:drug therapy / Q000209:etiology*; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome