Beta-Mannosidosis Is a Cause of Hypomyelination

Beta-mannosidosis (OMIM #248510) is a rare autosomal recessive disorder due to a deficiency of lysosomal beta-mannosidase associated with mutations in MANBA. Significant clinical variability has been noted in the small number of described cases. The magnetic resonance imaging (MRI) findings in patients with beta-mannosidosis have not been well-described.