Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2005 Nov;35(11):1081-5.
doi: 10.1007/s00247-005-1542-3. Epub 2005 Aug 4.

Proton MR spectroscopy in three children with Tay-Sachs disease

Kubilay Aydin  1 , Baris Bakir, Burak Tatli, Ege Terzibasioglu, Meral Ozmen
Affiliations
Case Reports

Proton MR spectroscopy in three children with Tay-Sachs disease

Kubilay Aydin et al. Pediatr Radiol. 2005 Nov.

Abstract

Background: Tay-Sachs disease is an inherited metabolic disease caused by the accumulation of GM(2) gangliosides in the central nervous system. Deficiency of hexosaminidase A leads to the accumulation of gangliosides in neurons, axons and glial cells.

Objective: To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease.

Materials and methods: Three children aged 10, 20 and 21 months were examined.

Results: On T2-weighted MR images there were hyperintense signal changes in the basal ganglia and cerebral white matter. MR spectroscopy demonstrated an increase in myoinositol/creatine and choline/creatine ratios with a decrease in the N-acetyl aspartate/creatine ratio.

Conclusions: The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.

PubMed Disclaimer

References

    1. Brain Dev. 2004 Sep;26(6):363-6 - PubMed
    1. AJNR Am J Neuroradiol. 1990 Jan-Feb;11(1):125-30 - PubMed
    1. Dev Neurosci. 1993;15(3-5):289-98 - PubMed
    1. Acta Pathol Jpn. 1977 May;27(3):387-407 - PubMed
    1. AJNR Am J Neuroradiol. 1999 Oct;20(9):1619-27 - PubMed

Publication types

LinkOut - more resources