Canavan Disease

Canavan disease is a severe autosomal recessive leukodystrophy caused by mutations in the ASPA gene, resulting in accumulation of N-acetylaspartate and spongy degeneration of white matter. Clinical presentation includes hypotonia, macrocephaly, developmental delay, and progressive neurological deterioration. Diagnosis is based on genetic testing, elevated N-acetylaspartate in urine or brain MRS, and MRI showing diffuse white matter involvement. Management is primarily supportive, including nutritional support, seizure control, and physiotherapy. Prognosis is poor, with most patients succumbing in early childhood due to progressive neurodegeneration.