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A case of familial nesidioblastosis: prenatal diagnosis of foetal hyperinsulinism
Author(s) -
Bianchi Cesare,
Corbella Enzo,
Beccaria Luciano,
Bolla Patrizia,
Chiumello Giuseppe
Publication year - 1992
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1992.tb12121.x
Subject(s) - nesidioblastosis , medicine , hyperinsulinism , prenatal diagnosis , obstetrics , congenital hyperinsulinism , pediatrics , pregnancy , fetus , hypoglycemia , genetics , insulin , insulin resistance , biology
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.