Brain damage in glycogen storage disease type I.
OBJECTIVE
To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI).


METHODS
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.
Melis
Daniela
D
Department of Pediatrics, Università Federico II, Naples, Italy.
Parenti
Giancarlo
G
Della Casa
Roberto
R
Sibilio
Michelina
M
Romano
Alfonso
A
Di Salle
Francesco
F
Elefante
Raffaele
R
Mansi
Giuseppina
G
Santoro
Lucio
L
Perretti
Anna
A
Paludetto
Roberto
R
Sequino
Luigi
L
Andria
Generoso
G
D000293:Adolescent; D000328:Adult; D001928:Brain Diseases, Metabolic / Q000453:epidemiology* / Q000209:etiology / Q000473:pathology; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000150:complications*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008279:Magnetic Resonance Imaging; D008297:Male; D009460:Neurologic Examination