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Neuroimaging findings in infantile GM1 gangliosidosis.
Erol, Ilknur; Alehan, Füsun; Pourbagher, M Ali; Canan, Oguz; Vefa Yildirim, S.
Afiliação
  • Erol I; Baskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Ankara, Turkey. ilknur_erol@yahoo.com
Eur J Paediatr Neurol ; 10(5-6): 245-8, 2006.
Article em En | MEDLINE | ID: mdl-17052929
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.
Assuntos
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Gangliosidose GM1 Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2006 Tipo de documento: Article País de afiliação: Turquia País de publicação: Reino Unido
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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encéfalo / Gangliosidose GM1 Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant Idioma: En Revista: Eur J Paediatr Neurol Assunto da revista: NEUROLOGIA / PEDIATRIA Ano de publicação: 2006 Tipo de documento: Article País de afiliação: Turquia País de publicação: Reino Unido