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

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.

Abbreviations

ERT

enzyme replacement therapy

HCT

haematopoietic cell transplantation

HLA

human leukocyte antigen

MRI

magnetic resonance imaging

CT

computed tomography

MPS I

mucopolysaccharidosis type 1

CNS

central nervous system

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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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