Canavan disease

This code represents Canavan disease, a rare, inherited, and progressive neurodegenerative disorder characterized by the degeneration of white matter in the brain. It is caused by a deficiency of the enzyme aspartoacylase, leading to the accumulation of N-acetylaspartate (NAA) in the brain. Infants typically present with macrocephaly, hypotonia, developmental delay, and feeding difficulties.

Use this code for confirmed diagnoses of Canavan disease, typically identified through genetic testing or elevated NAA levels in urine or brain imaging. This code is appropriate for documenting the underlying genetic metabolic disorder affecting the central nervous system.

• Ensure documentation specifies "Canavan disease" and not just a generic leukodystrophy.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter.
• Do not confuse with other leukodystrophies or metabolic disorders unless specifically ruled out.