Brain damage in glycogen storage disease type I

Abstract

Objective To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). Study design 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. Results 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). Conclusions Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI.