Hyperinsulinism in syndromal disorders.
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Hyperinsulinism in syndromal disorders. / Meissner, T; Rabl, W; Mohnike, K; Scholl, S; Santer, René; Mayatepek, E.
in: ACTA PAEDIATR, Jahrgang 90, Nr. 8, 8, 2001, S. 856-859.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Hyperinsulinism in syndromal disorders.
AU - Meissner, T
AU - Rabl, W
AU - Mohnike, K
AU - Scholl, S
AU - Santer, René
AU - Mayatepek, E
PY - 2001
Y1 - 2001
N2 - 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.
AB - 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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 90
SP - 856
EP - 859
JO - ACTA PAEDIATR
JF - ACTA PAEDIATR
SN - 0803-5253
IS - 8
M1 - 8
ER -
