title: Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia.
abstract: The authors report the cases of two patients with neonatal onset of hypoketotic hypoglycemia with hyperinsulinism and a poor response to diazoxide. Pancreatic venous sampling showed a diffuse pancreatic hyperplasia in one patient and a focal lesion in the other. The second patient, diagnosed after a significant delay, suffered severe long-term neurological sequelae, despite having more limited hyperplasia; the brain MRI also showed severe pathological changes in cortex and white matter, predominantly in the parieto-occipital region. Early and accurate diagnosis is critical in these patients in whom hypoglycemia is compounded by a lack of the ketone bodies which represent a vital alternative source of energy for the central nervous system.
authors.affiliation: Department of Pediatrics, University of Florence, A. Meyer Hospital, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Zammarchi
authors.forename: L
authors.initials: L
authors.lastname: Filippi
authors.forename: C
authors.initials: C
authors.lastname: Fonda
authors.forename: P A
authors.initials: PA
authors.lastname: Benedetti
authors.forename: D
authors.initials: D
authors.lastname: Pistone
authors.forename: M A
authors.initials: MA
authors.lastname: Donati
mesh_terms: D001284:Atrophy; D001925:Brain Damage, Chronic / Q000175:diagnosis*; D002540:Cerebral Cortex / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D006946:Hyperinsulinism / Q000151:congenital* / Q000175:diagnosis; D007003:Hypoglycemia / Q000151:congenital* / Q000175:diagnosis; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination; D010179:Pancreas / Q000473:pathology; D010180:Pancreatectomy