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

Ataxia-telangiectasia: MR and CT findings.

Author information

1
Servizio di Neuroradiologia, Clinica Neurologica Fondazione C. Mondino, Pavia, Italy.

Abstract

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.

PMID:
8089319
[Indexed for MEDLINE]

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