Vol. 5, Issue 2, Part A (2023)

Canavan disease or N-acetyl-aspartic acid (NAA) is a rare and severe, autosomal-recessive metabolic leukodystrophy that causes spongy degeneration of the white matter by brain accumulation of NAA acid due to aspartoacylase (ASPA) deficiency. We report a 13 month-old boy case presented with macrocephaly, abnormal tonus, psychomotor delay and blindness. Brain magnetic resonance imaging and chromatography of urinary organic acids allowed to make the diagnosis. Furthermore, we also report the observation of a 12-year-old girl with healthy psychomotor development which revealed that she was experiencing facial myoclonus at a frequency of 5 seizures per day. The cerebral MRI findings indicated the presence of leukodystrophy, and MRI spectroscopy validated the diagnosis of Canavan disease by revealing an elevated N-acetyl aspartate peak. Our aim is to describe clinical, radiological, and biological presentations in the light recent literature.