Proton MR spectroscopy in three children with Tay-Sachs disease

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. To present the cranial MRI and proton MR spectroscopy findin...

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Bibliographic Details
Published in:Pediatric radiology 2005-11, Vol.35 (11), p.1081-1085
Main Authors: Aydin, Kubilay, Bakir, Baris, Tatli, Burak, Terzibasioglu, Ege, Ozmen, Meral
Format: Article
Language:English
Subjects:
Brain - metabolism
Brain - pathology
Female
Humans
Infant
Magnetic Resonance Imaging - methods
Magnetic Resonance Spectroscopy - methods
Male
Neurotransmitter Agents - metabolism
Protons
Tay-Sachs Disease - diagnosis
Tay-Sachs Disease - metabolism
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Summary: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. To present the cranial MRI and proton MR spectroscopy findings of children of Tay-Sachs disease. Three children aged 10, 20 and 21 months were examined. 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. The spectroscopy findings support demyelination, gliosis and neuronal loss in the neuropathological process of Tay-Sachs disease.
ISSN:0301-0449
1432-1998
DOI:10.1007/s00247-005-1542-3