A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism.
Persistent neonatal hyperinsulinaemic hypoglycaemia due to nesidioblastosis is a rare condition probably transmitted by an autosomal recessive inheritance. Recurrent hypoglycaemic episodes become evident after birth and cause severe neurological damage without intensive treatment. The intrauterine detection of hypoglycaemia and hyperinsulinism in newborns subsequently diagnosed as affected by nesidioblastosis has not yet been reported. We describe a case of familial nesidioblastosis in which an intrauterine diagnosis could be suggested by high levels of insulin and C-peptide and low values of glucose in the amniotic fluid.
Bianchi
C
C
Department of Paediatrics, University of Milan, Scientific Institute H San Raffaele, Italy.
Corbella
E
E
Beccaria
L
L
Bolla
P
P
Chiumello
G
G
D000649:Amniocentesis; D001786:Blood Glucose / Q000032:analysis; D002096:C-Peptide / Q000097:blood; D006801:Humans; D006946:Hyperinsulinism / Q000097:blood / Q000209:etiology*; D007231:Infant, Newborn; D007328:Insulin / Q000097:blood; D008297:Male; D010182:Pancreatic Diseases / Q000150:complications* / Q000235:genetics / Q000601:surgery; D010375:Pedigree; D011296:Prenatal Diagnosis / Q000379:methods*
D001786:Blood Glucose; D002096:C-Peptide; D007328:Insulin