Journal of Inherited Metabolic Disease

, Volume 33, Supplement 3, pp 123–127

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

Case Report

DOI: 10.1007/s10545-009-9035-4

Cite this article as:
Broomfield, A.A., Chakrapani, A. & Wraith, J.E. J Inherit Metab Dis (2010) 33(Suppl 3): 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


computed tomography


mucopolysaccharidosis type 1


central nervous system

Copyright information

© SSIEM and Springer 2010

Authors and Affiliations

  • A. A. Broomfield
    • 1
    • 3
  • A. Chakrapani
    • 2
  • J. E. Wraith
    • 1
  1. 1.Department of Genetic MedicineRoyal Manchester Children’s HospitalManchesterUK
  2. 2.Birmingham Children’s HospitalBirminghamUK
  3. 3.Department of Metabolic DiseaseGreat Ormond Street Hospital for Children NHS TrustLondonUK

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