Proton MR spectroscopy in three children with Tay-Sachs disease.
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.


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.
Aydin
Kubilay
K
Neuroradiology Division, Department of Radiology, Istanbul Medical School, Istanbul University, Istanbul, Turkey. dr.aydink@superonline.com
Bakir
Baris
B
Tatli
Burak
B
Terzibasioglu
Ege
E
Ozmen
Meral
M
D001921:Brain / Q000378:metabolism* / Q000473:pathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008297:Male; D018377:Neurotransmitter Agents / Q000378:metabolism*; D011522:Protons; D013661:Tay-Sachs Disease / Q000175:diagnosis* / Q000378:metabolism*
D018377:Neurotransmitter Agents; D011522:Protons