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The effects of early and late bone marrow transplantation in siblings with alpha‐mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
Author(s) -
Broomfield A. A.,
Chakrapani A.,
Wraith J. E.
Publication year - 2010
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-009-9035-4
Subject(s) - transplantation , medicine , brother , pediatrics , hematopoietic stem cell transplantation , bone marrow transplantation , surgery , sociology , anthropology
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.