Ataxia-telangiectasia: MR and CT findings

J Comput Assist Tomogr. 1994 Sep-Oct;18(5):724-7.


Objective: The aim of our study was to describe the neuroradiologic features of 12 patients with ataxia-telangiectasia (A-T), a degenerative multisystemic autosomal recessive hereditary disorder with onset in childhood. Clinical features include cerebellar ataxia, oculocutaneous telangiectasias, and recurrent bronchopulmonary infections. Patients present varying states of immunodeficiency and a high incidence of neoplasms. Chromosomal instability with a rearrangement of chromosomes 7 and 14 is always present.

Materials and methods: We describe the neuroradiological findings (10 MR and 2 CT) in 12 subjects: 11 with A-T and 1 heterozygote parent.

Results: The images revealed a diffuse cerebellar atrophy, with marked involvement of the vermis and unusual decreased thickness of the superior cortex of the cerebellar hemispheres. Hypoplasia of the inferior vermis and a large cisterna magna were also frequent signs.

Conclusion: Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.

MeSH terms

  • Adolescent
  • Adult
  • Ataxia Telangiectasia / diagnosis*
  • Ataxia Telangiectasia / diagnostic imaging*
  • Ataxia Telangiectasia / pathology
  • Atrophy
  • Brain / diagnostic imaging*
  • Brain / pathology*
  • Cerebellar Ataxia / pathology
  • Cerebellum / diagnostic imaging
  • Cerebellum / pathology
  • Cerebral Ventricles / pathology
  • Child
  • Child, Preschool
  • Dilatation, Pathologic / diagnostic imaging
  • Dilatation, Pathologic / pathology
  • Double-Blind Method
  • Eye Diseases / pathology
  • Female
  • Humans
  • Lung Diseases / microbiology
  • Magnetic Resonance Imaging*
  • Male
  • Skin Diseases, Vascular / pathology
  • Tomography, X-Ray Computed*