Radiological clue to diagnosis of Canavan disease.

[canavan disease]

Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay , initial hypotonia progressing to hypertonia , macrocephaly and blindness . The authors present an infant with these clinical features . MRI brain shows white matter changes with characteristic involvement of subcortical U fibres and MR spectroscopy shows the characteristic peak of N- acetyl aspartate . The importance of specific clinical features and imaging in the diagnosis of different leukodystrophies in resource and access limited settings is suggested .