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.
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