Canavan disease
How is it diagnosed?
Canavan disease may be suspected on the basis of an MRI (magnetic resonance imaging) examination which will indicate swelling and spongy degeneration of the white matter of the brain which is characteristic of Canavan disease. Alternatively the less sensitive CT (computer tomography) scan may be used to aid diagnosis. The suspect diagnosis may be confirmed if individuals have an increased level of a specific chemical (N-acetyl-L-aspartic acid) in their urine, blood and spinal fluid and a biochemical test can be used to detect this.
What are the symptoms?
| How is it treated? ![]()