Beta-Mannosidosis Is a Cause of Hypomyelination

Beta-mannosidosis (OMIM #248510) is a rare autosomal reces-sive disorder due to a deficiency of lysosomal beta-mannosidase associated with mutations in MANBA. Significant clinical vari-ability 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.

Automated summary

Beta-mannosidosis is a rare autosomal recessive disorder caused by a deficiency of lysosomal beta-mannosidase due to mutations in the MANBA gene. There is significant clinical variability among the limited number of reported cases. The magnetic resonance imaging (MRI) findings in beta-mannosidosis patients have not been well-documented.