بررسی یک مورد Mucopolysaccharidosis از نوع Maroteaux-Lamy

Mucopolysaccharidosis type maroteaux-lamy is a very rare hereditary disease. The disease is marked by the deficiency of the lysosomal enzyme N-Acetyl galactosamine-a-4-sulfate sulfatase (arylsulfatase B). It is inherited as an autosomal recessive trait. The most clinical manifestations are: corneal clouding, organomegaly, hernias, coarse facial features, cardiac insufficiency and skeletal abnormalities (dysostosis multiplex). The mental performance remains relatively normal. This is a case report of a child with clinical manifestations of mucopolysaccharidosis type maroteaux-lamy.