The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy. Performance ability as measured on Wechsler IQ tests showed lower scores in patients compared to controls (p<0.05). The prevalence of abnormal EEG findings (26.3% vs 2.6%), VEPs (38.4% vs 7.7%), SEPs (23% vs 0%), and BAEPs abnormalities (15.7% vs 0%) was higher in patients than controls (p<0.05). MRI showed abnormalities (dilated occipital horns, hyperintensity of subcortical white matter) in 8/14 (57.1%) patients and none of controls. Performance ability and BAEP abnormalities correlated significantly with the frequency of admissions for hypoglycemia. EEG abnormalities correlated with poor dietary compliance. [1]

COMMENT. GSDI is characterized by hypoglycemia, hyperlactic acidemia, and hepatorenal enlargement. Neonatal and recurrent hypoglycemia play a key role in causing brain damage in GSDI, and dietary compliance is essential in treatment.