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Neuroradiology

, Volume 45, Issue 5, pp 315–319 | Cite as

Ataxia-telangiectasia: the pattern of cerebellar atrophy on MRI

  • F. Tavani
  • R. A. ZimmermanEmail author
  • G. T. Berry
  • K. Sullivan
  • R. Gatti
  • P. Bingham
Diagnostic Neuroradiology

Abstract

We describe MRI of the brain in 19 patients with ataxia-telangiectasia (AT) and correlate the appearances with the degree of neurologic deficit. We examined 10 male and nine female patients; 17 were aged between 2 and 12 years (mean 8 years) but a woman and her brother were 35 and 38 years old, and had a variant of AT. Ataxia was the first recognized sign of the disease in every patient. We detected the following patterns of cerebellar atrophy: in the youngest patient, aged 2 years, the study was normal; in the five next youngest patients 3–7 years of age, the lateral cerebellum and superior vermis showed the earliest changes of atrophy; and all but one of the other patients had moderate to marked diffuse atrophy of vermis and cerebellar hemispheres. There were 12 patients aged 9 years and above; one, who was normal, was 9 years old. The five patients who at the time of examination were unable to walk all had diffuse atrophy involving both vermis and cerebellar hemispheres.

Keywords

Ataxia telangiectasia Brain Magnetic resonance imaging 

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Copyright information

© Springer-Verlag 2003

Authors and Affiliations

  • F. Tavani
    • 1
  • R. A. Zimmerman
    • 2
    Email author
  • G. T. Berry
    • 3
  • K. Sullivan
    • 4
  • R. Gatti
    • 2
  • P. Bingham
    • 2
  1. 1.Department of RadiologyUniversity of ModenaItaly
  2. 2.Department of RadiologyThe Children's Hospital of PhiladelphiaPhiladelphiaUSA
  3. 3.Department of EndocrinologyThe Children's Hospital of PhiladelphiaPhiladelphiaUSA
  4. 4.Department of ImmunologyThe Children's Hospital of PhiladelphiaPhiladelphiaUSA

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