Infantile-Onset Canavan Disease: A Rare Type of Leukodystrophy

Abstract Canavan disease is a rare form of leucodystrophy due to the deficiency of aspartoacylase enzyme, characertized by global developmental delay, spastic quadriparesis and macrocephaly. The neuroimagimg hallmark is the involvement of periventricular and subcortical white matter and tall N-acetyl aspartic acid peak.