Radiological Clue to Diagnosis of Canavan Disease

Abstract

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.