Cranial MRI in ataxia-telangiectasia

We examined five males with laboratory-confirmed ataxia-telangiectasia (AT), aged 9-28 years, several times by MRI (9 examinations: 5 at 0.15 T, 3 at 0.5 T, 1 at 1.5 T). Intermediate, T1-, T2- and T2*-weighted spin-echo and gradient-echo sequences were performed. All patients showed vermian atrophy,...

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Bibliographic Details
Published in:Neuroradiology 1995, Vol.37 (1), p.77-82
Main Authors: SARDANELLI, F, PARODI, R. C, OTTONELLO, C, RENZETTI, P, SAITTA, S, LIGNANA, E, MANCARDI, G. L
Format: Article
Language:English
Subjects:
Adolescent
Adult
Ataxia Telangiectasia - diagnosis
Atrophy
Biological and medical sciences
Cerebellum - abnormalities
Cerebellum - pathology
Cerebral Ventricles - pathology
Child
Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...)
Diagnosis, Differential
Humans
Magnetic Resonance Imaging
Male
Medical genetics
Medical sciences
Sphenoid Sinusitis - diagnosis
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Summary:We examined five males with laboratory-confirmed ataxia-telangiectasia (AT), aged 9-28 years, several times by MRI (9 examinations: 5 at 0.15 T, 3 at 0.5 T, 1 at 1.5 T). Intermediate, T1-, T2- and T2*-weighted spin-echo and gradient-echo sequences were performed. All patients showed vermian atrophy, enlarged fourth ventricle and cisterna magna; four showed cerebellar hemisphere atrophy; two enlarged infracerebellar subarachnoid spaces and four patients had sinusitis. No focal areas of abnormal signal were seen in the brain, diffuse high signal was found in the central cerebral white matter of the oldest patient. AT is an important human model of inherited cancer susceptibility and multisystem ageing; as in xeroderma pigmentosum and other "breakage syndromes", ionising radiation should be avoided. When imaging is necessary, MRI should be preferred to CT in patients known or suspected to have AT and those with undefined paediatric ataxias of nontraumatic origin. If atrophy of only the cerebellum, especially the vermis, is noted, laboratory research should be performed to confirm the diagnosis of AT.
ISSN:0028-3940
1432-1920
DOI:10.1007/BF00588526