[Canavan disease or n-acetyl aspartic aciduria [one case]]

ABSTRACT

Canavan's disease [CD] or N-Acetylaspartic aciduria, is an autosomal recessive leukodystrophy characterized by spongy degeneration of brain. The disease is an inborn error of metabolism caused by aspartoacylase deficiency resulting from accumulation of N- acetylaspartic acid in the brain. The authors report a case in a ten-month old boy who presented with developmental delay and megalencephaly noticeable afterfour months of age. Magnetic resonance imaging of the brain show diffuse white matter degeneration. The diagnosis of CD was confirmed by nuclear magnetic resonance spectroscopy and gas chromatography-mass spectrometry