Different neurologic outcomes in two patients with neonatal hyperinsulinemic hypoglycemia

• Published in: Child's nervous system Vol. 12; no. 7; pp. 413 - 416
• Main Authors: ZAMMARCHI, E, FILIPPI, L, FONDA, C, BENEDETTI, P. A, PISTONE, D, DONATI, M. A
• Format: Journal Article
• Language: English
• Published: Berlin Springer 01-07-1996
• Subjects: Atrophy; Biological and medical sciences; Brain Damage, Chronic - diagnosis; Cerebral Cortex - pathology; Cerebral Ventricles - pathology; Follow-Up Studies; Humans; Hyperinsulinism - congenital; Hyperinsulinism - diagnosis; Hypoglycemia - congenital; Hypoglycemia - diagnosis; Infant, Newborn; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Neurologic Examination; Other metabolic disorders; Pancreas - pathology; Pancreatectomy; Pigments (porphyrias, hyperbilirubinemias...); Endocrinopathy; Human; Hyperinsulinemia; Nervous system diseases; Central nervous system; Hypoglycemia; Nuclear magnetic resonance imaging; Case study; Newborn; Evolution; Comparative study; Pancreatic disease; Brain (vertebrata)
• ISSN: 0256-7040; 1433-0350
• DOI: 10.1007/BF00395098

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.