Canavan disease: a rare form of leukodystrophy

Abstract

Canavan disease (CD) is a rare autosomal recessive leukodystrophy characterized by spongy degeneration of the white matter of brain. It is characterized by accumulation of N-acetyl aspartic (NAA) acid in mitochondria which inhibits myelin synthesis. Axial hypotonia, ataxia, defects in cognitive functions, defective visual follow and sucking, irritability and macrocephaly are seen in the patients. Increased high NAA peaks are seen magnetic resonance spectroscopy (MRS). Here we report a case with defective head control and could not sit without support who had no other symptoms before. She had axial hypotonia and bilateral nystagmus on neurological examination. The diagnosis of CD is based on these clinical findings and radiologic evaluations.