Long-term follow-up of a girl with Maroteaux-Lamy syndrome after bone marrow transplantation.
World J Pediatr
; 4(2): 152-4, 2008 May.
Article
en En
| MEDLINE
| ID: mdl-18661775
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Trasplante de Médula Ósea
/
Mucopolisacaridosis VI
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Child
/
Female
/
Humans
Idioma:
En
Revista:
World J Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2008
Tipo del documento:
Article
País de afiliación:
China