Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis

  • Else R. DanielsenEmail author
  • Allan M. Lund
  • Carsten Thomsen
Case Report
Part of the JIMD Reports book series (JIMD, volume 11)


α-Mannosidosis, OMIM #248500, is an autosomal recessive lysosomal storage disease caused by acidic α-mannosidase deficiency. Treatment options include bone marrow transplantation (BMT) and, possibly in the future, enzyme replacement therapy. Brain magnetic resonance spectroscopy (MRS) enables non-invasive monitoring of cerebral treatment effect. Accumulated cerebral mannose-containing oligosaccharides were demonstrated by MRS in a patient who at age 2 years and 11 months received a BMT from a haploidentical non-carrier sibling. The cerebral mannose-containing oligosaccharides had disappeared as early as 9½ months after BMT. MRS furthermore demonstrated the persistent treatment effect at regular intervals up to 5½ years after BMT. MRS is a non-invasive tool that can demonstrate the effect of BMT treatment. Likewise, MRS may be used to demonstrate the cerebral effect of other potential treatments such as enzyme replacement therapy.


Apparent Diffusion Coefficient Bone Marrow Transplantation Magnetic Resonance Spectroscopy Enzyme Replacement Therapy Broad Resonance 
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Supplementary material

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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Else R. Danielsen
    • 1
    Email author
  • Allan M. Lund
    • 2
  • Carsten Thomsen
    • 1
  1. 1.Copenhagen ØDenmark
  2. 2.Copenhagen ØDenmark

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