Ataxia-telangiectasia: MR and CT findings.
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.


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.


CONCLUSIONS
Magnetic resonance is the technique of choice in this type of disorder since it permits better visualization of the posterior fossa structures.
Farina
L
L
Servizio di Neuroradiologia, Clinica Neurologica Fondazione C. Mondino, Pavia, Italy.
Uggetti
C
C
Ottolini
A
A
Martelli
A
A
Bergamaschi
R
R
Sibilla
L
L
Zappoli
F
F
Egitto
M G
MG
Lanzi
G
G
D000293:Adolescent; D000328:Adult; D001260:Ataxia Telangiectasia / Q000175:diagnosis* / Q000000981:diagnostic imaging* / Q000473:pathology; D001284:Atrophy; D001921:Brain / Q000000981:diagnostic imaging* / Q000473:pathology*; D002524:Cerebellar Ataxia / Q000473:pathology; D002531:Cerebellum / Q000000981:diagnostic imaging / Q000473:pathology; D002552:Cerebral Ventricles / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004108:Dilatation, Pathologic / Q000000981:diagnostic imaging / Q000473:pathology; D004311:Double-Blind Method; D005128:Eye Diseases / Q000473:pathology; D005260:Female; D006801:Humans; D008171:Lung Diseases / Q000382:microbiology; D008279:Magnetic Resonance Imaging; D008297:Male; D017445:Skin Diseases, Vascular / Q000473:pathology; D014057:Tomography, X-Ray Computed