Infantile Sandhoff's Disease: Multivoxel Magnetic Resonance Spectroscopy Findings

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 res...

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Bibliographic Details
Published in:Journal of child neurology 2003-06, Vol.18 (6), p.425-428
Main Authors: Alkan, Alpay, Kutlu, Ramazan, Yakinci, Cengiz, Sigirci, Ahmet, Aslan, Mehmet, Sarac, Kaya
Format: Article
Language:English
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Summary: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 spectroscopy 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. (J Child Neurol 2003;18:425—428).
ISSN:0883-0738
1708-8283
DOI:10.1177/08830738030180061201