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Background: Mucopolysaccharidoses disease type VI (MPS-6) or Marteaux-Lamy syndrome is an autosomal recessive lysosome storage disease which is caused by aryl sulfatase B enzyme deficiency. Because of the accumulation of abnormal metabolites in various tissues of body due to enzyme deficiency, different clinical manifestations from mild to severe occur in the patients. Case: This study reports a case of mucopolysaccharidoses disease admitted with fever, dyspnea, and pneumonia. The patient had coarse facial features, protruding tongue, dwarfism, and abdominal distension. In the urine sample, a significant amount of drmatan sulfate metabolite was found and peripheral blood smear testing indicated large and abnormal inclusions in peripheral blood neutrophils. Leukocyte aryl sulfatase B activity decreased and spine radiography reported multiple skeletal abnormalities. Differential diagnosis with other mucopolysaccharidoses indicated Marteaux-Lamy.

Keywords: Arylsulfatase B, Mucopolysaccharidoses, Maroteaux-Lamy syndrome

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