Alexander disease

This code represents Alexander disease, a rare, progressive, and fatal neurodegenerative disorder characterized by the destruction of myelin in the central nervous system. It is a type of leukodystrophy caused by mutations in the GFAP gene, leading to the accumulation of Rosenthal fibers within astrocytes. The disease primarily affects infants and young children, but juvenile and adult forms also exist.

Use this code when documentation confirms a diagnosis of Alexander disease, typically based on clinical presentation, neuroimaging findings (e.g., characteristic white matter abnormalities), and genetic testing identifying GFAP mutations. This code is appropriate for reporting the primary diagnosis in patients undergoing evaluation, treatment, or management of this specific leukodystrophy.

• Ensure documentation clearly specifies "Alexander disease" to differentiate it from other leukodystrophies.
• Do not confuse this with other types of leukodystrophies (e.g., Krabbe disease, Canavan disease) which have their own specific codes.
• Consider sequencing this code as the primary diagnosis when it is the reason for the encounter.