Aicardi-Goutieres syndrome

This code identifies Aicardi-Goutieres syndrome (AGS), a rare, genetically determined encephalopathy characterized by severe neurological dysfunction, often presenting in infancy. It involves abnormal immune responses leading to inflammation and damage in the brain, spinal cord, and sometimes other organs. Patients typically exhibit microcephaly, spasticity, dystonia, and developmental delay.

Assign this code for patients diagnosed with Aicardi-Goutieres syndrome based on clinical presentation, neuroimaging findings (e.g., intracranial calcifications, white matter abnormalities), and genetic testing confirming pathogenic variants in associated genes. Documentation should clearly state the diagnosis of AGS, often supported by a neurologist's assessment.

• Ensure documentation specifies "Aicardi-Goutieres syndrome" rather than a general encephalopathy.
• Consider sequencing this code as the primary diagnosis when AGS is the main reason for the encounter.
• Code any associated neurological manifestations (e.g., microcephaly, spasticity, seizures) separately as secondary diagnoses.