title: Neuroimaging findings in infantile GM1 gangliosidosis.
abstract: GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. Three clinical forms (infantile-, juvenile-, and adult-onset) of the disease are recognized. Patients with infantile GM1 gangliosidosis present at birth or shortly thereafter with somatic and bony changes, followed by severe neurological deterioration ultimately leading to death within the first 2 years of life. We present the brain CT, MRI and MR spectroscopy (MRS) findings in a 17-month-old Turkish girl with infantile GM1 gangliosidosis. Neuroimaging findings in patients with infantile GM1 gangliosidosis have been reported only in a few cases. In this study, MRS of the thalamus was performed to study the metabolic changes in GM1 gangliosidosis. We showed a a decreased NAA/Cr ration and an increased Cho/Cr ratio. To our knowledge, this is the first report of magnetic resonance spectroscopy findings in type-1 GM1 gangliosidosis.
authors.affiliation: Baskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Ankara, Turkey. ilknur_erol@yahoo.com
authors.forename: Ilknur
authors.initials: I
authors.lastname: Erol
authors.forename: Füsun
authors.initials: F
authors.lastname: Alehan
authors.forename: M Ali
authors.initials: MA
authors.lastname: Pourbagher
authors.forename: Oguz
authors.initials: O
authors.lastname: Canan
authors.forename: S
authors.initials: S
authors.lastname: Vefa Yildirim
mesh_terms: D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000378:metabolism; D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002794:Choline / Q000378:metabolism; D005260:Female; D016537:Gangliosidosis, GM1 / Q000175:diagnosis* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy / Q000379:methods; D014057:Tomography, X-Ray Computed / Q000379:methods
chemical_list: D001224:Aspartic Acid; C000179:N-acetylaspartate; D002794:Choline