Taipei, Taiwan, China

Author Affiliations: Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan, China (Wang CC, Hwu WL, Lin KH)

Corresponding Author: Kai-Hsin Lin, Department of Pediatrics, National Taiwan University Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan, China (Tel: 886-2-2312-3456 ext 5988; Fax: 886-2-2393-4749; Email: link@ha.mc.ntu.edu.tw)

Background: Mucopolysaccharidosis type VI (MPS VI or Maroteaux-Lamy syndrome) is a rare autosomal recessive genetic disorder. We treated a 10-year-old girl with Maroteaux-Lamy syndrome successfully with bone marrow transplantation (BMT). 

Methods: The patient had reconstitution with bone marrow from her HLA-matched brother. One month after BMT, arylsulfatase activity of the recipient's leukocytes became normal. No graft-versus-host disease (GVHD) was observed. Arylsulfatase B activity was maintained and the urinary excretion of glycosaminoglycans (GAGs) became normal.

Results: The clinical response of the patient was slow but persistent during 12 years after BMT. Improved motor function included walking alone for a long distance without aid, riding a bicycle, taking a bath by herself, etc. Besides, few infections occurred. Exertional dyspnea, severe snoring, and vertigo were much improved.

Conclusions: Early intervention is recommended for BMT. Allogeneic BMT may provide a better life quality as illustrated in the present case.

Key words: arylsulfatase; bone marrow transplantation; glycosaminoglycan; mucopolysaccharidosis type VI