The Turkish Journal of Pediatrics 2016 , Vol 58 , Num 1
Evaluation of central nervous system in patients with glycogen storage disease type 1a
Yusuf Aydemir 1 ,Figen Gürakan 1 ,İnci Nur Saltık Temizel 1 ,Hülya Demir 1 ,Kader Karlı Oğuz 2 ,Dilek Yalnızoğlu 2 ,Meral Topçu 3 ,Hasan Özen 1 ,Aysel Yüce 1
1 Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2 Department of Pediatrics and Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey
3 Divisions of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey
DOI : 10.24953/turkjped.2016.01.002 We aimed to evaluate structure and functions of central nervous system (CNS) in children with glycogen storage disease (GSD) type 1a.

Neurological examination, psychometric tests, electroencephalography (EEG), magnetic resonance imaging (MRI), visual evoked potentials (VEP) and brainstem auditory evoked potentials (BAEP) were performed. The results were compared between patients with good and poor metabolic control and healthy children.

Twenty-three patients with GSD type 1a were studied. Twelve patients were in poor metabolic control group and 11 patients in good metabolic control group. Five patients had intellectual disability, 10 had EEG abnormalities, seven had abnormal VEP and two had abnormal BAEP results. MRI was abnormal in five patients. There was significant correlation between the number of hypoglycemic attacks and MRI abnormalities.

Central nervous system may be affected in GSD type 1a even in patients with normal neurologic examination. Accumulation of abnormal results in patients with poor metabolic control supports the importance of metabolic control in GSD type 1a. Keywords : glycogen storage disease type 1a, central nervous system, hypoglycemia, intellectual disability

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