Prenatal Diagnosis and Postnatal Management of Diffuse Congenital Hyperinsulinism: A Case ReportPeranteau W.H.a · Ganguly A.b · Steinmuller L.b · Thornton P.b · Johnson M.P.a · Howell L.J.a · Stanley C.A.b · Adzick N.S.a
aThe Center for Fetal Diagnosis and Treatment, bDivision of Endocrinology/Diabetes, The Children’s Hospital of Philadelphia, The University of Pennsylvania School of Medicine, Philadelphia, Pa., USA
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We present the first case of the prenatal diagnosis of congenital hyperinsulinism based on the genetic analysis of known family mutations in the SUR1 gene. An amniocentesis was performed at 16 weeks gestation at which time two mutations in the SUR1 gene were identified consistent with the diagnosis of diffuse hyperinsulinism. The mother was transported to our facility and underwent an elective cesarian section at 38 weeks gestation. The diagnosis was confirmed and treatment was initiated within the first minutes of life. After a short course of failed medical management, the patient underwent a 98% pancreatectomy with subsequent good glycemic control. This case highlights the benefits of the timely in utero diagnosis of hyperinsulinism by mutational analysis.
© 2006 S. Karger AG, Basel
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