The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
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- Broomfield, A.A., Chakrapani, A. & Wraith, J.E. J Inherit Metab Dis (2010) 33: 123. doi:10.1007/s10545-009-9035-4
This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing somatic problems and recurrent infections. The younger brother had undergone transplantation pre-symptomatically at 6 months of age. Their clinical, radiological and developmental outcomes are documented and compared with the previous published cases, with the case for early transplantation being weighted against other potential therapies.
enzyme replacement therapy
haematopoietic cell transplantation
human leukocyte antigen
magnetic resonance imaging
- MPS I
mucopolysaccharidosis type 1
central nervous system