title: Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.
abstract: BACKGROUND
  An infant diagnosed as having hypopituitarism and on adequate hydrocortisone replacement therapy was referred to a tertiary endocrine unit at 5 weeks of age with persistent hypoglycemia that required a high rate of intravenous glucose infusion (up to 18 mg/kg•min⁻¹) to maintain euglycemia.
  
  
  METHODS
  A controlled hypoglycemia screen was performed to measure levels of plasma glucose, insulin, C-peptide and 3-β-hydroxybutyrate concentrations. The pancreas was analyzed by fluorine-18-L-3,4-dihydroxyphenylalanine ((18)F-DOPA) PET scan. Genetic analyses were performed on the peripheral blood leukocytes, and loss of heterozygosity within the resected focal lesion of the pancreas was investigated by microsatellite analysis. A glucagon stimulation test helped determine pituitary function, and an MRI of the brain and pituitary gland was performed to define the anatomy of the intracranial structures and the pituitary gland.
  
  
  METHODS
  Focal form of congenital hyperinsulinism localized to the head of the pancreas, septo-optic dysplasia and pituitary hormone deficiencies.
  
  
  RESULTS
  Resection of the focal lesion from the head of the pancreas and hormonal replacement therapy for hypopituitarism.
authors.affiliation: Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK.
authors.forename: Raja
authors.initials: R
authors.lastname: Padidela
authors.forename: Ritika R
authors.initials: RR
authors.lastname: Kapoor
authors.forename: Yuva
authors.initials: Y
authors.lastname: Moyo
authors.forename: Clare
authors.initials: C
authors.lastname: Gilbert
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Flanagan
authors.forename: Sian
authors.initials: S
authors.lastname: Ellard
authors.forename: Khalid
authors.initials: K
authors.lastname: Hussain
mesh_terms: D020155:3-Hydroxybutyric Acid / Q000097:blood; D001786:Blood Glucose / Q000032:analysis; D002096:C-Peptide / Q000097:blood; D044903:Congenital Hyperinsulinism / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D005934:Glucagon; D005947:Glucose / Q000008:administration & dosage; D006801:Humans; D006854:Hydrocortisone / Q000172:deficiency / Q000627:therapeutic use; D007018:Hypopituitarism / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy; D007223:Infant; D007328:Insulin / Q000097:blood; D019656:Loss of Heterozygosity; D008297:Male; D010179:Pancreas / Q000601:surgery; D010907:Pituitary Hormones / Q000172:deficiency / Q000627:therapeutic use; D025962:Septo-Optic Dysplasia / Q000150:complications / Q000175:diagnosis* / Q000235:genetics
chemical_list: D001786:Blood Glucose; D002096:C-Peptide; D007328:Insulin; D010907:Pituitary Hormones; D005934:Glucagon; D005947:Glucose; D020155:3-Hydroxybutyric Acid; D006854:Hydrocortisone