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Neuroradiology

, Volume 37, Issue 1, pp 77–82 | Cite as

Cranial MRI in ataxia-telangiectasia

  • F. Sardanelli
  • R. C. Parodi
  • C. Ottonello
  • E. Renzetti
  • S. Saitta
  • E. Lignana
  • G. L. Mancardi
Paediatric Neuroradiology

Abstract

We examined five males with laboratory-confirmed ataxiatelangiectasia (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.

Key words

Brain, atrophy Brain, diseases Brain, MRI MRI in infants and children 

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References

  1. 1.
    Syllaba L, Henner K (1926) Contribution a l'independance de l'athétose double idiopathique et congénitale. Atteinte familiale, syndrome dystrophique, signe du réseau vasculaire conjunctival, intégrité psychique. Rev Neurol 1: 541–562Google Scholar
  2. 2.
    Louis-Bar D (1941) Sur un syndrome progressif comprenant des télangiectasies capillaires cutanées et conjunctivales symmétrique, à disposition naevoide et de trouble cérebelleux. Confin Neurol 4: 32–42Google Scholar
  3. 3.
    Boder E, Sedgwick RP (1957) Ataxiatelangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. A preliminary report on 7 children, an autopsy and a case history. USC Med Bull 9: 15–28Google Scholar
  4. 4.
    Boder E, Sedgwick RP (1958) Ataxiatelangiectasia. A familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21: 526–554Google Scholar
  5. 5.
    Boder E (1985) Ataxia-telangiectasia: an overview. In: Gatti RA, Swift M (eds) Ataxia-telangiectasia: genetics, neuropathology, and immunology of a degenerative disease of childhood. Liss, New York, pp 1–63Google Scholar
  6. 6.
    McKusick VA (1991) Mendelian inheritance in man, 9th edn. John Hopkins University Press, BaltimoreGoogle Scholar
  7. 7.
    Gatti RA (1991) Localizing the genes for ataxia-telangiectasia: a human model for inherited cancer susceptibility. Adv Cancer Res 56: 77–104Google Scholar
  8. 8.
    Timme TL, Moses RE (1988) Review: diseases with DNA damage-processing defects. Am J Med Sci 295: 40–48Google Scholar
  9. 9.
    Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT (1986) The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet 39: 573–586Google Scholar
  10. 10.
    Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K (1991) Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine 70: 99–117Google Scholar
  11. 11.
    Waldmann TA, McIntire KR (1972) Serum-alpha-fetoprotein levels in patients with ataxia-telangiectasia. Lancet II: 112Google Scholar
  12. 12.
    Sugimoto T, Savada T, Tozawa M, Kidowaki T, Kusunoki T, Yamaguchi N (1978) Plasma levels of carcinoembryonic antigen in patients with ataxia-telangiectasia. J Pediatr 92: 436–439Google Scholar
  13. 13.
    McFarlin DE, Strober W, Waldmann TA (1972) Ataxia-telangiectasia. Medicine 51: 281–314Google Scholar
  14. 14.
    Oppenheimer DR (1984) Diseases of the basal ganglia, cerebellum and motor neurons. In: Adams JH, Corsellis JAN, Duchen LW (eds) Greenfield's neuropathology. Wiley, New York, pp 724–726Google Scholar
  15. 15.
    Sedgwick RP, Boder E (1972) Ataxiatelangiectasia. In: Vinken PJ, Bruyn GW (eds) A handbook of clinical neurology. North Holland, Amsterdam, pp 267–339Google Scholar
  16. 16.
    Gatti RA, Good RA (1971) Occurrence of malignancy in immunodeficiency diseases. Cancer 28: 89–98Google Scholar
  17. 17.
    Morrell D, Cromartie E, Swift M (1986) Mortality and cancer incidence in 263 patients with ataxia-telangiectasia. J Natl Cancer Inst 77: 89–92Google Scholar
  18. 18.
    Swift N, Sholman L, Perry M (1976) Malignant neoplasms in the families of patients with ataxia-telangiectasia. Cancer Res 36: 209–215Google Scholar
  19. 19.
    Levine C, Vrlenich L (1989) Renal lymphoma in ataxia-telangiectasia: CT contribution. J Comput Assist Tomogr 13: 537–539Google Scholar
  20. 20.
    Stoppa-Lyonnet D, Aurias A (1992) Ataxia télangiectasie: quel impact en cancérologie clinique? Bull Cancer 79: 645–650Google Scholar
  21. 21.
    Hecht F, Kaiser-McGraw B (1982) Ataxia-telangiectasia. In: Bridges BA, Harnden DG (eds) Ataxia-telangiectasia. Wiley, New York, pp 197–201Google Scholar
  22. 22.
    Jaspers NG, Bootsma D (1982) Genetic heterogeneity in ataxia-telangiectasia studied by cell fusion. Proc Natl Acad Sci USA 79: 2641–2644Google Scholar
  23. 23.
    Biemond A, Van Bolhuis JH (1959) Atrophia cerebelli with oculocutaneous telangiectasis and bronchiectasis as a familial syndrome. Ned Tijdschr Geneeskd 103: 2253–2258Google Scholar
  24. 24.
    Scharnetzky M, Kohlschutter A (1980) CT findings in a case of ataxia-telangiectasia (Louis-Bar syndrome). Neuropediatrics 11: 384–387Google Scholar
  25. 25.
    Assencio-Ferreira VJ, Bancovsky I, Diament AJ, Gherpelli JLD, Moreira FA (1981) Computed tomography in ataxia-telangiectasia. J Comput Assist Tomogr 5: 660–661Google Scholar
  26. 26.
    Romanengo M (1991) Atassia-teleangiectasia: il registro nazionale. Dati preliminari. Thesis, University of GenuaGoogle Scholar
  27. 27.
    Chessa L, Terracini B, Federico A, Borrone C, Gandini E (1989) Registro italiano per l'atassia-teleangiectasia. Presentazione e discussione dei primi dati. In: Patologia genetice ad esordio tandivo, Monduzzi, Bologna, pp 495–497Google Scholar
  28. 28.
    Byrd SE (1991) Central nervous system manifestations of inherited syndromes. In: Atlas SW (ed) Magnetic resonance imaging of the brain and spine. Raven Press, New York, p 562Google Scholar
  29. 29.
    Amromin GD, Boder E, Teplitz R (1979) Ataxia-telangiectasia with a 32-year survival. A clinico-pathological report. J Neuropathol Exp Neurol 38: 621–643Google Scholar
  30. 30.
    Agamanolis DP, Greenstein JL (1979) Ataxia-telangiectasia. Report of a case with Lewy bodies and vascular abnormalities within cerebral tissue. J Neuropathol Exp Neurol 38: 475–488Google Scholar
  31. 31.
    Casaril M, Gabrielli GB, Capra F, Falezza GC (1982) Atassia-teleangectasia: descrizione di un caso con emorragie cerebrali multiple e cirrosi epatica. Minerva Med 73: 2183–2188Google Scholar
  32. 32.
    Osetowska E, Traczynska (1964) Sur l'ataxie avec télangiectasie, une observation anatomo-clinique. Acta Neuropathol 3: 319–325Google Scholar
  33. 33.
    Wessel K, Schroth G, Diener HC, Muller-Forell W, Dichgans J (1989) Significance of MRI_confirmed atrophy of the cranial spinal cord in Friedreich's ataxia. Eur Arch Psychiatry Neurol Sci 238: 225–230Google Scholar
  34. 34.
    Braffman BH, Tojanowski JQ, Atlas SW (1991) The aging brain and neurodegenerative disorders. In: Atlas SW (ed) Magnetic resonance imaging of the brain and spine. Raven Press, New York, pp 609–615Google Scholar
  35. 35.
    Savoiardo M, Strada L, Girotti F, Zimmerman RA, Grisoli M, Testa D, Petrillo R (1990) Olivopontocerebellar atrophy: MR diagnosis and relationship to multisystem atrophy. Radiology 174: 693–696Google Scholar
  36. 36.
    Baloh RW, Yee RD, Honrubia V (1986) Late cortical cerebellar atrophy. Clinical and oculographic features. Brain 109: 159–180Google Scholar
  37. 37.
    Vighetto A, Froment JC, Trillet M, Aimard G (1988) Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 45: 547–549Google Scholar
  38. 38.
    Furman JM, Baloh RW, Chugani H, Waluch V, Bradley WG (1985) Infantile cerebellar atrophy. Ann Neurol 17: 399–402Google Scholar
  39. 39.
    Saito H, Yanagisawa T (1989) Acute cerebellar ataxia after influenza vaccination with recurrence and marked cerebellar atrophy. Tohoku J Exp Med 158: 95–103Google Scholar
  40. 40.
    Gotoff SP, Amirokri E, Liebner EJ (1967) Ataxia-telangiectasia: neoplasia, untoward response to X-irradiation, and tuberous sclerosis. Am J Dis Child 114: 617–625Google Scholar
  41. 41.
    Hecht F, Koler RD, Rigas DA (1966) Leukemia and lymphocytes in ataxiatelangiectasia. Lancet II: 1993Google Scholar
  42. 42.
    Cox R, Hosking GP, Wilson J (1978) Ataxia-telangiectasia: evaluation of radiosensitivity in cultured skin fibroblasts as a diagnostic test. Arch Dis Child 53: 386–390Google Scholar
  43. 43.
    Painter RB, Young BR (1980) Radiosensitivity in ataxia-telangiectasia: a new explanation. Proc Natl Acad Sci USA 77: 7315–7317Google Scholar
  44. 44.
    Waldmann TA, Misiti J, Nelson DL (1983) Ataxia-telangiectasia: a multisystemic hereditary disease with immunodeficiency, impaired maturation, X-ray hypersensitivity, and a high incidence of neoplasia. Ann Intern Med 99: 367–379Google Scholar
  45. 45.
    Keyse SM, McAleer MA, Davies DJG (1985) The response of normal and ataxia-telangiectasia human fibroblasts to lethal effects of far, mid and near ultraviolet radiations. Int J Radiat Biol 48: 975–985Google Scholar
  46. 46.
    Ejima Y, Sasaki MS (1986) Enhanced expression of X-ray and UV-induced chromosomal aberrations by cytosine arabinoside in ataxia-telangiectasia cells. Mutat Res 159: 117–123Google Scholar
  47. 47.
    Parshad R, Sanford KK, Jones GM (1985) G22 chromosomal radiosensitivity of ataxia-telangiectasia heterozygotes. Cancer Genet Cytogenet 14: 163–168Google Scholar
  48. 48.
    Morgan JL, Holcomb TM, Morrisey RW (1968) Radiation reaction in ataxia-telangiectasia. Am J Dis Child 116: 557–558Google Scholar
  49. 49.
    Cunliffe PN, Mann JR, Cameron AH, Roberts KD, Ward HW (1977) Radiosensitivity in ataxia-telangiectasia. J Pediatr 91: 269–271Google Scholar
  50. 50.
    Pritchard J, Sandland MR, Breatnach FB, Pincott JR, Cox R, Husband P (1982) The effects of radiation therapy for Hodgkin's disease in a child with ataxia-telangiectasia. Cancer 50: 877–886Google Scholar
  51. 51.
    Abadir R, Hakami N (1983) Ataxia-telangiectasia with cancer. An indication for reduced radiotherapy and chemotherapy doses. Br J Radiol 56: 343–345Google Scholar
  52. 52.
    Paller AS (1987) Ataxia-telangiectasia. Neurol Clin 5: 447–449Google Scholar
  53. 53.
    Harnden DG, Bridges BA (1982) Ataxia-telangiectasia. A model of cancer susceptibility. In: Bridges BA, Harnden DG (eds) Ataxia-telangiectasia. Wiley, New York, pp 3–10Google Scholar

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • F. Sardanelli
    • 1
  • R. C. Parodi
    • 1
  • C. Ottonello
    • 1
  • E. Renzetti
    • 1
  • S. Saitta
    • 1
  • E. Lignana
    • 2
  • G. L. Mancardi
    • 3
  1. 1.Department of RadiologyUniversity of GenoaGenoaItaly
  2. 2.G. Gaslini InstituteGenoaItaly
  3. 3.Department of NeurologyUniversity of GenoaGenoaItaly

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