Alpers disease

This code represents Alpers disease, a rare and severe neurodegenerative disorder primarily affecting infants and young children. It is characterized by progressive cerebral degeneration, liver dysfunction, and intractable seizures, often leading to early death. The condition is caused by mutations in the POLG gene.

Use this code when documentation explicitly states a diagnosis of Alpers disease. This typically occurs in pediatric neurology or genetic clinics following genetic testing confirmation or a strong clinical suspicion based on the characteristic triad of neurological deterioration, liver failure, and epilepsy. Supporting documentation should include clinical findings, imaging results (e.g., MRI showing cerebral atrophy), and genetic test reports.

• Ensure the documentation clearly distinguishes Alpers disease from other mitochondrial disorders or progressive encephalopathies.
• Code any associated manifestations, such as intractable epilepsy (G40.A-), hepatic failure (K72.9-), or developmental delays (F88), as secondary diagnoses.
• Genetic testing results confirming POLG gene mutations strengthen the specificity of this diagnosis.