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Case Reports
. 2010 Dec:33 Suppl 3:S123-7.
doi: 10.1007/s10545-009-9035-4. Epub 2010 Feb 18.

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

A A Broomfield  1 , A Chakrapani, J E Wraith
Affiliations
Case Reports

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

A A Broomfield et al. J Inherit Metab Dis. 2010 Dec.

Abstract

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.

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