Neurodegeneration with Brain Iron Accumulation on MRI: An Adult Case of α-Mannosidosis

  • Evelien Zoons
  • Tom J. de Koning
  • Nico G. G. M. Abeling
  • Marina A. J. TijssenEmail author
Case Report
Part of the JIMD Reports book series (JIMD, volume 4)


Case: A 34-year-old woman was referred to our hospital with progressive movement disorders and neurodegeneration with brain iron accumulation and enlargement of the frontal diploe on the MRI. Metabolic testing revealed that she had α-mannosidosis (AMD), a lysosomal storage disorder.

Background: AMD is a rare genetic disorder that causes α-mannosidase deficiency resulting in lysosomal accumulation of undigested oligosaccharides. The symptoms of AMD consist of facial and skeletal deformities combined with progressive psychiatric and neurological complaints, especially ataxia and mental retardation. Bilateral patellar dislocation and hearing impairment are frequent.

Discussion: The movement disorders we found in our patient have not been reported previously, but they are likely late symptoms of this progressive disorder. The iron deposits in the basal ganglia have also not been reported in AMD and are yet of unknown significance. Lysosomal storage disorders, such as AMD, should be considered in patients with progressive neurologic conditions and neurodegeneration with brain iron accumulation on MRI.


Basal Ganglion Iron Accumulation Spinocerebellar Ataxia Lysosomal Storage Disorder Lysosomal Storage Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



The authors would like to thank Marieke Sprengers for her helpful comments on the MRI-scan.

Supplementary material

zoons et al video 1 (17,932 KB)


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2011

Authors and Affiliations

  • Evelien Zoons
    • 1
  • Tom J. de Koning
    • 2
  • Nico G. G. M. Abeling
    • 3
  • Marina A. J. Tijssen
    • 1
    Email author
  1. 1.Department of NeurologyAcademic Medical CentreAmsterdamThe Netherlands
  2. 2.Department of PaediatricsUniversity Medical CentreUtrechtThe Netherlands
  3. 3.Laboratory of Genetic and Metabolic ConditionsAcademic Medical CentreAmsterdamThe Netherlands

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