title: Evaluation of central nervous system in patients with glycogen storage disease type 1a.
abstract: 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.
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Yusuf
authors.initials: Y
authors.lastname: Aydemir
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Figen
authors.initials: F
authors.lastname: Gürakan
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: İnci Nur
authors.initials: İN
authors.lastname: Saltık Temizel
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Hülya
authors.initials: H
authors.lastname: Demir
authors.affiliation: Department of Pediatrics and Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Kader Karlı
authors.initials: KK
authors.lastname: Oğuz
authors.affiliation: Department of Pediatrics and Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Dilek
authors.initials: D
authors.lastname: Yalnızoğlu
authors.affiliation: Divisions of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Meral
authors.initials: M
authors.lastname: Topçu
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Hasan
authors.initials: H
authors.lastname: Özen
authors.affiliation: Divisions of Pediatric Gastroenterology and Hepatology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Aysel
authors.initials: A
authors.lastname: Yüce
mesh_terms: D000293:Adolescent; D002490:Central Nervous System / Q000503:physiopathology*; D002493:Central Nervous System Diseases / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005074:Evoked Potentials, Visual / Q000502:physiology*; D005260:Female; D005953:Glycogen Storage Disease Type I / Q000503:physiopathology*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male
keywords: central nervous system; glycogen storage disease type 1a; hypoglycemia; intellectual disability