In which of the following disease, NAA peak is seen?
Correct Answer: Canavans disease
Description: Canavan disease, also known as spongiform degeneration of white matter (not to be confused with Creutzfeldt-Jakob Disease) or aspaoacylase deficiency,is a leukodystrophy clinically characterized by megalencephaly, severe mental and neurological deficits, and blindness. It is an autosomal recessive disorder characterized by a genetic mutation on the sho arm of chromosome 17. There is a deficiency of N-acetylaspaoacylase, a key enzyme in myelin synthesis, with resultant accumulation of N-acetyl aspaate in the brain, CSF, plasma, and urine. MRS (Magnetic Resonance Spectroscopy) of Canavan Disease shows NAA peak at 2 ppm. Other salient points: Alanine peak is seen at 1.48ppm in meningioma. Lipid lactate peak is seen at 1.33ppm in tuberculoma.
Category:
Radiology
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