Infantile Sandhoff's disease: multivoxel magnetic resonance spectrosecopy 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 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.
Alkan
Alpay
A
Department of Radiology, Turgut Ozal Medical Center, Inonu University School of Medicine, Malatya, Turkey. aalkan@inonu.edu.tr
Kutlu
Ramazan
R
Yakinci
Cengiz
C
Sigirci
Ahmet
A
Aslan
Mehmet
M
Sarac
Kaya
K
D002675:Child, Preschool; D006801:Humans; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D012497:Sandhoff Disease / Q000175:diagnosis*