Infantile Sandhoff's disease: Multivoxel magnetic resonance spectroscopy findings

Alkan A., KUTLU R. , Yakinci C., Sigirci A., Aslan M., Sarac K.

JOURNAL OF CHILD NEUROLOGY, cilt.18, ss.425-428, 2003 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 18 Konu: 6
  • Basım Tarihi: 2003
  • Doi Numarası: 10.1177/08830738030180061201
  • Sayfa Sayıları: ss.425-428


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.