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Brain damage in glycogen storage disease type I.

Authors :: Melis D
Parenti G
Della Casa R
Sibilio M
Romano A
Di Salle F
Elefante R
Mansi G
Santoro L
Perretti A
Paludetto R
Sequino L
Andria G
Source :: The Journal of pediatrics [J Pediatr] 2004 May; Vol. 144 (5), pp. 637-42.
Publication Year :: 2004
Abstract: Objective: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI).<br />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.<br />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).<br />Conclusions: Brain damage, probably caused by recurrent severe hypoglycemia, may be present in patients with GSDI.