Brain damage in glycogen storage disease type I

• Published in: The Journal of pediatrics Vol. 144; no. 5; pp. 637 - 642
• Main Authors: Melis, Daniela, Parenti, Giancarlo, Casa, Roberto Della, Sibilio, Michelina, Romano, Alfonso, Di Salle, Francesco, Elefante, Raffaele, Mansi, Giuseppina, Santoro, Lucio, Perretti, Anna, Paludetto, Roberto, Sequino, Luigi, Andria, Generoso
• Format: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01-05-2004; Elsevier
• Subjects: Adolescent; Adult; Biological and medical sciences; Brain Diseases, Metabolic - epidemiology; Brain Diseases, Metabolic - etiology; Brain Diseases, Metabolic - pathology; Carbohydrates (enzymatic deficiencies). Glycogenosis; Case-Control Studies; Child; Child, Preschool; Electroencephalography; Errors of metabolism; Evoked Potentials; Female; Glycogen Storage Disease Type I - complications; Humans; Hypoglycemia - complications; Infant; Italy - epidemiology; Magnetic Resonance Imaging; Male; Medical sciences; Metabolic diseases; Neurologic Examination; Italy; GSDI; SEPs; MRI; EEG; BAEPs; Eps; VEPs; Human; Pediatrics; Glycogenosis I Von Gierke; Central nervous system; Metabolic diseases; Carbohydrate; Enzymopathy; Child; Genetic disease; Cerebral disorder
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/j.jpeds.2004.02.033

To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI).
Nineteen patients (13 females and 6 males, aged 0.9-22.6 years) and 38 sex- and age-matched controls entered the study. Neurological examinations, psychometric tests (IQ, tests of performance and verbal abilities), standard electroencephalogram (EEG), somatosensory (SEPs), visual (VEPs), and brain-stem auditory evoked potentials (BAEPs), and brain magnetic resonance imaging (MRI) were performed.
The results of tests of performance ability were lower in patients than in controls (
P < .05). The prevalence of abnormal EEG findings (26.3% versus 2.6%), VEPs (38.4% versus 7.7%), SEPs (23.0% versus 0%), and BAEPs abnormalities (15.7% versus 0%) was higher in patients than in controls (
P < .05). MRI pattern was altered in 57.1% of patients and was normal in all controls (
P < .05). Both results of tests of performance ability and BAEPs abnormalities significantly correlated with the frequency of admissions for hypoglycemia, whereas EEG abnormalities correlated with dietary compliance (
P < .05).
Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI.