A CASE OF REFRACTORY SEIZURES IN JUVENILE CANAVAN DISEASE

Introduction: Canavan disease is a rare, progressive neurological disorder classified as a leukodystrophy, caused by mutations in the ASPA gene on chromosome 17, resulting in a deficiency of the enzyme aspartoacylase. This leads to the accumulation of N-acetyl aspartic acid (NAA) in the brain. There are two forms of the disease: a severe infantile/neonatal form and a milder juvenile form, both presenting symptoms such as hypotonia, intellectual disability, feeding difficulties, paralysis, and seizures, with severity varying between forms. Diagnosis is achieved by detecting increased NAA levels in blood, urine, and cerebrospinal fluid, and MRI shows characteristic bilateral white matter changes. Prognosis is poor for infantile form, while juvenile form patients have better outcomes .