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Sonographic and computed tomographic findings in Canavan's disease.

A proven case of Canavan's disease (spongy degeneration of Van Bogaert-Bertrand type) of the brain is presented with sonography and computed tomography (CT) scans and histological findings. This is, to our knowledge, the first reported case of the sonographic features of Canavan's disease of the brain. This very rare condition can sonographically mimic a number of brain cystic leucomalacias. The patient, a 3-month-old girl, was referred for investigations of convulsions, macrocephaly and delayed milestones. She was the only child of parents who were first cousins. She was delivered at full term with no immediate or late neonatal complications. On examination, she had macrocephaly and the head circumference, at 45 cm, was above the 90th percentile. The anterior fontanelle was bulging and the cranial sutures were separated.