Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

  • Ole HenselEmail author
  • F. Hanisch
  • K. Stock
  • D. Stoevesandt
  • M. Deschauer
  • T. Müller
Research Report
Part of the JIMD Reports book series (JIMD, volume 20)


Objective: Cerebrovascular abnormalities have been reported in adult patients with Pompe disease. The objective was to study these abnormalities by (1) determining the diameter and mean flow velocity (MFV) of large cerebral arteries and (2) estimating cerebral blood flow (CBF), resistance index (RI) and cerebrovascular reactivity (CVR) as functions of resistance vessels.

Methods: In ten adults with Pompe disease and twenty controls, the diameter, peak systolic (PSV) and end-diastolic velocities (EDV) of arteries supplying the brain were quantified by MR angiography and sonography. MFV, RI and CBF were calculated. CVR in the middle cerebral artery (MCA) was determined by hyperventilation and acetazolamide injection.

Results: MR angiography revealed dilation of cerebral arteries predominantly in the posterior circulation. Dilative arteriopathy was found in three patients; two of them showed vertebrobasilar dolichoectasia. Despite of the dilative arteriopathy, the MFV was normal, indicating increased CBF and dilated resistance vessels. RI of all examined arteries and CVR of MCA were normal.

Conclusion: The data suggest that dilation of small and large cerebral arteries is a common feature in adults with Pompe disease. Increased CBF might be the consequence of dilated resistance vessels. However, dysfunction of resistance vessels was rarely found.

Synopsis: In adults with Pompe disease, dilation of small and large cerebral arteries is a common feature and might be associated with increased cerebral blood flow.


Adults with Pompe disease Dilative arteriopathy and dolichoectasia Cerebral blood flow Cerebrovascular reactivity 



We thank P. R. Joshi, S. Demuth and Z. Lukacs for the genetic and enzymatic analysis, K. Birch and A. C. F. van Maanen for copyediting the manuscript and O. Kuß for the statistical support. We also gratefully acknowledge the effort of all the patients who participated in the study.


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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2014

Authors and Affiliations

  • Ole Hensel
    • 1
    Email author
  • F. Hanisch
    • 1
  • K. Stock
    • 2
  • D. Stoevesandt
    • 2
  • M. Deschauer
    • 1
  • T. Müller
    • 1
  1. 1.Department of NeurologyMartin-Luther-University Halle-WittenbergHalle (Saale)Germany
  2. 2.Department of Diagnostic RadiologyMartin-Luther-University Halle-WittenbergHalle (Saale)Germany

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