Mucopolysaccharidosis VI, a Case Report

Mucopolysacharidosis VI (MPS VI) is an autosomal recessive disorder in which because of deficiency of Aryl Sulfatase B، lysosomal storage disease and accumulation of abnormal metabolites in various tissues of the body are resulted. This has not been reported yet in Guilan province and is such a rare disease that can have different clinical manifestations in the range of mild to severe. Case history: In this study، a case with first compliant of suspicious movements to seizure، with 20 month of age was hospitalized and presented. The patient is a 22month year old boy with features of frontal bossing، short neck، coarse appearance، and large tongue، Mongolian spot on the back، hemangioma on buttock، dulicocephaly and lumbar kyphosis. In laboratory data evaluation، chromatography of carbohydrate and amino acid in urine and blood were normal but Aryl Sulfatase B enzyme was decreased. In radiographic evaluation، there was multiple bony abnormality reported and in differential diagnosis with types of Mucopolysacharidosis، type VI or Martoteaux-Lamy syndrome was discussed. As، ontime diagnosis and appropriate treatment could decrease complications of this disease such as mortality rate it seems that after observing symptoms، further investigations are mandatory