“ From build-up of N-acetylaspartate (NAA) from enzyme deficiency. Begins in first year of life. Macrocephaly and brain enlargement. MRI •...
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From build-up of N-acetylaspartate (NAA) from enzyme deficiency.
Begins in first year of life.
Macrocephaly and brain enlargement.
MRI
• Involvement of all white matter and deep grey matter (especially the basal ganglia and thalami)
• involving the subcortical U-fibers
• Marked NAA peak on MRI spectroscopy
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• Marked NAA peak on MRI spectroscopy
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