Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation.

Abstract

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.

• Authors: Ching-Chia Wang, Wuh-Liang Hwu, Kai-Hsin Lin
• Journal: World journal of pediatrics : WJP (World J Pediatr) Vol. 4 Issue 2 Pg. 152-4 (May 2008) ISSN: 1708-8569 [Print] Switzerland
• PMID: 18661775 (Publication Type: Case Reports, Journal Article)

Chemical References

• Glycosaminoglycans
• N-Acetylgalactosamine-4-Sulfatase

Topics

• Bone Marrow Transplantation
• Child
• Female
• Follow-Up Studies
• Glycosaminoglycans (urine)
• Graft Survival
• Humans
• Motor Activity
• Mucopolysaccharidosis VI (immunology, metabolism, surgery)
• N-Acetylgalactosamine-4-Sulfatase (metabolism)