Canavan disease in a patient of African origin

This patient is the second case of Canavan disease in a patient of African origin in 226 reported cases. A 7-month-old patient of African origin presented with neurological signs suggestive of leukodystrophy and macrocephaly. A magnetic resonance imaging (MRI) study at 4 weeks of age revealed delayed myelinization pattern. A second MRI study done at 6 months of age revealed significant U fibers involvement and swollen gyri in addition to a delayed myelinization pattern. The diagnosis of Canavan syndrome was confirmed by demonstrating a marked elevation of N-acetylaspartic acid in urine. The purpose of this report is to recommend that Canavan syndrome be considered in the differential diagnosis of leukodystrophy in patients of African origin.