Case report describes Canavan disease, a rare leukodystrophy causing developmental delays in infants, indicating the need for awareness.
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.
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Cornelius et al. (2026) studied this question.
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