Morquio disease with CNS involvement: a rare association

[摘要] Morquio syndrome is a rare type of mucopolysaccharidosis. Our patient presented with uncontrolled seizures and gross skeletal deformity. He was suspected to be suffering from mucopolysaccharidosis based on his disease presentation but the diagnosis could be made as Morquio syndrome on the basis of the presence of keratan sulphate in the urine.

[学科分类] 儿科学

[关键词] Morquio disease;mucopolysaccharidosis(MPS);glycosaminoglycans