Infantile Sandhoff's disease: multivoxel magnetic resonance spectrosecopy findings.

Abstract:

:Sandhoff's disease is a rare, genetic lysosomal storage disease leading to delayed myelination or demyelination. Although neuroimaging findings in this disease have been reported previously, magnetic resonance spectroscopy findings have not been reported. In this report, we present magnetic resonance imaging and magnetic resonance spectrscopy features of two cases with Sandhoff's disease. Magnetic resonance spectroscopy revealed findings indicating widespread demyelination in both cases and neuroaxonal loss and anaerobic metabolism in the second case. Magnetic resonance spectroscopy could provide useful information in the explanation of the clinical picture of cases with Sandhoff's disease.

journal_name

J Child Neurol

authors

Alkan A,Kutlu R,Yakinci C,Sigirci A,Aslan M,Sarac K

doi

10.1177/08830738030180061201

subject

Has Abstract

pub_date

2003-06-01 00:00:00

pages

425-8

issue

6

eissn

0883-0738

issn

1708-8283

journal_volume

18

pub_type

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