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Neuroimaging findings in infantile GM1 gangliosidosis.
Eur J Paediatr Neurol 2006 Sep-Nov; 10(5-6):245-8EJ

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+Show Affiliations

Baskent University Faculty of Medicine, Department of Pediatrics, Neurology Division, Ankara, Turkey. ilknur_erol@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17052929

Citation

Erol, Ilknur, et al. "Neuroimaging Findings in Infantile GM1 Gangliosidosis." European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, vol. 10, no. 5-6, 2006, pp. 245-8.
Erol I, Alehan F, Pourbagher MA, et al. Neuroimaging findings in infantile GM1 gangliosidosis. Eur J Paediatr Neurol. 2006;10(5-6):245-8.
Erol, I., Alehan, F., Pourbagher, M. A., Canan, O., & Vefa Yildirim, S. (2006). Neuroimaging findings in infantile GM1 gangliosidosis. European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society, 10(5-6), pp. 245-8.
Erol I, et al. Neuroimaging Findings in Infantile GM1 Gangliosidosis. Eur J Paediatr Neurol. 2006;10(5-6):245-8. PubMed PMID: 17052929.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Neuroimaging findings in infantile GM1 gangliosidosis. AU - Erol,Ilknur, AU - Alehan,Füsun, AU - Pourbagher,M Ali, AU - Canan,Oguz, AU - Vefa Yildirim,S, Y1 - 2006/10/17/ PY - 2005/12/23/received PY - 2006/07/12/revised PY - 2006/08/22/accepted PY - 2006/10/21/pubmed PY - 2007/2/23/medline PY - 2006/10/21/entrez SP - 245 EP - 8 JF - European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society JO - Eur. J. Paediatr. Neurol. VL - 10 IS - 5-6 N2 - 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. SN - 1090-3798 UR - https://www.unboundmedicine.com/medline/citation/17052929/Neuroimaging_findings_in_infantile_GM1_gangliosidosis_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1090-3798(06)00111-5 DB - PRIME DP - Unbound Medicine ER -