title: Persistent hyperinsulinemic hypoglycemia of infancy.
abstract: Congenital hyperinsulinism (CHI) is the most frequent cause of severe, persistent hypoglycemia in infancy and childhood. We report a case of CHI with diffuse pancreatic abnormality diagnosed preoperatively using the 68Ga octreotide (DOTA NOC) positron emission tomography scan. Genetic analysis revealed homozygous ABCC8 splicing mutation. Subtotal (95%) pancreatectomy was done, and the infant remained euglycemic and was discharged on breast feeds. The patient is continuously followed up and is asymptomatic until 9 months.
authors.affiliation: Department of Pediatrics, Lady Hardinge Medical College, New Delhi, India. dineshmamc@gmail.com
authors.forename: Dinesh
authors.initials: D
authors.lastname: Yadav
authors.forename: Bhavna
authors.initials: B
authors.lastname: Dhingra
authors.forename: Sandeep
authors.initials: S
authors.lastname: Kumar
authors.forename: Virendra
authors.initials: V
authors.lastname: Kumar
authors.forename: Ashok Kumar
authors.initials: AK
authors.lastname: Dutta
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D017398:Alternative Splicing / Q000235:genetics; D044903:Congenital Hyperinsulinism / Q000000981:diagnostic imaging* / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009942:Organometallic Compounds; D049268:Positron-Emission Tomography / Q000379:methods*; D024661:Potassium Channels, Inwardly Rectifying / Q000235:genetics*; D011955:Receptors, Drug / Q000235:genetics*; D064233:Sulfonylurea Receptors
chemical_list: C504894:68Ga-DOTANOC; D018528:ATP-Binding Cassette Transporters; D009942:Organometallic Compounds; D024661:Potassium Channels, Inwardly Rectifying; D011955:Receptors, Drug; D064233:Sulfonylurea Receptors