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Hyperinsulinism in syndromal disorders
Author(s) -
Meissner T,
Rabl W,
Mohnike K,
Scholl S,
Santer R,
Mayatepek E
Publication year - 2001
Publication title -
acta paediatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.2001.tb02445.x
Subject(s) - medicine , hyperinsulinism , congenital central hypoventilation syndrome , pediatrics , disease , hypoventilation , heart disease , insulin , respiratory system , insulin resistance
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. Conclusion: 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.