Focal congenital hyperinsulinism in a patient with septo-optic dysplasia.
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.
Padidela
Raja
R
Clinical and Molecular Genetics Unit, UCL Institute of Child Health and Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, UK.
Kapoor
Ritika R
RR
Moyo
Yuva
Y
Gilbert
Clare
C
Flanagan
Sarah E
SE
Ellard
Sian
S
Hussain
Khalid
K
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
D001786:Blood Glucose; D002096:C-Peptide; D007328:Insulin; D010907:Pituitary Hormones; D005934:Glucagon; D005947:Glucose; D020155:3-Hydroxybutyric Acid; D006854:Hydrocortisone