Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation.
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.
Wang
Ching-Chia
CC
Department of Pediatrics, National Taiwan University Hospital and College of Medicine, National Taiwan University, Taipei, Taiwan, China.
Hwu
Wuh-Liang
WL
Lin
Kai-Hsin
KH
D016026:Bone Marrow Transplantation; D002648:Child; D005260:Female; D005500:Follow-Up Studies; D006025:Glycosaminoglycans / Q000652:urine; D006085:Graft Survival; D006801:Humans; D009043:Motor Activity; D009087:Mucopolysaccharidosis VI / Q000276:immunology / Q000378:metabolism / Q000601:surgery*; D020051:N-Acetylgalactosamine-4-Sulfatase / Q000378:metabolism
D006025:Glycosaminoglycans; D020051:N-Acetylgalactosamine-4-Sulfatase