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What is In which of the following disease, NAA peak is seen? and explain in detail?
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.