期刊
PEDIATRIC NEUROLOGY
卷 140, 期 -, 页码 76-77出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2022.12.012
关键词
Beta-mannosidosis; Hypomyelination; Magnetic resonance imaging; Oligosaccharidosis
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.
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.
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