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Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature

  • Interventional Neuroradiology
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Abstract

Hereditary hemorrhagic telangiectasia (HHT, Rendu-Osler-Weber disease) is a vascular disorder with dominant autosomal transmission characterised usually by multiple mucocutaneous and visceral abnormalities. Neurological manifestations due to the primary involvement of spinal cord by vascular malformations are rare. We present a young man with HHT associated with a central nervous system arteriovenous malformation and a giant perimedullary fistula, that was manifested as progressive myelopathy. The diagnosis was made coupling magnetic resonance imaging to selective spinal arteriography. The therapeutic option was endovascular treatment by mechanically detachable coils which resulted in full exclusion of the fistula with full improvement of symptoms. During follow-up a stable clinical and morphological outcome was achieved. Clinical manifestations in HHT, with emphasis on neurological symptoms, are reviewed as well as the therapeutic options to deal with giant perimedullary fistula.

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References

  1. Saint-Maurice JP, Houdart E, Gelbert F, Reizine D and Merland JJ (1998) Malformations vasculaires vertébromédullaires. Encycl Méd Chir Radiodiagnostic—Neuroradiologie—Appareil locomoteur. 31–671-G-10, Elsevier, Paris, p. 14

  2. Aminoff MJ, Barnard RO, Logue V (1974) The pathophysiology of spinal vascular malformations. J Neurol Sci 23:255–263

    Article  CAS  PubMed  Google Scholar 

  3. Guttmagher AE, Marchuk DA, White RIJ (1995) Hereditary hemorrhagic telangiectasia. N Engl J Med 333: 918–924

    CAS  PubMed  Google Scholar 

  4. Porteous MEM, Burn J, Proctor SJ (1995) Hereditary hemorrhagic telangiectasia: a clinical analysis. J Med Genet 29: 527–530

    Google Scholar 

  5. Garland HG, Annig ST (1950) Hereditary haemorrhagic telangiectasia: genetic and biographical study. Br J Dermatol 62: 289–310

    Google Scholar 

  6. Sabba C, Pasculli G, Cirulli A, et al (2002) Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease). Minerva Cardioangiol 50: 221–238

    PubMed  Google Scholar 

  7. Piantanida M, Buscarini E, Dellavecchia C, et al (1996) Hereditary haemorrhagic telangiectasia with extensive liver involvement is not caused by either HHT 1 or HHT 2. J Med Genet 33: 441–443

    CAS  PubMed  Google Scholar 

  8. Shovlin CL, Guttmacher AE, Buscarini E, et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91: 66–67

    Article  PubMed  Google Scholar 

  9. Peery WH (1987) Clinical spectrum of hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease). Am J Med 82: 989–998

    CAS  PubMed  Google Scholar 

  10. Assar OS, Friedman CM, White RI (1991) The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 101: 977–980

  11. Vase P, Grove O (1986) Gastrointestinal lesions in hereditary hemorrhagic telangiectasia. Gastroenterology 91: 1079–1083

    CAS  PubMed  Google Scholar 

  12. Sobel D, Norman D (1984) CNS manifestations of hereditary hemorrhagic telangiectasia. AJNR 5: 569–573

    CAS  Google Scholar 

  13. Roman G, Fisher M, Perl DP, Poser CM (1978) Neurological manifestations of hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): report of two cases and review of literature. Ann Neurol 4: 130–144

    CAS  PubMed  Google Scholar 

  14. Kouyoumdjian JA, Gagliardi AR (1983) Hereditary hemorrhagic telangiectasia: report of a case . Arq Neuropsiquiatr 41: 396–401

    PubMed  Google Scholar 

  15. Adams HP Jr, Subbiah B, Bosch EP (1977) Neurological aspects of hereditary hemorrhagic telangiectasia. Report of two cases. Arch Neurol 34: 101–104

    PubMed  Google Scholar 

  16. Neau JP, Boissonnot L, Boutaud P, Fontanel JP, Gil R, Lefèvre JP (1987) Neurological manifestations of Rendu-Osler-Weber disease. A propos of 4 cases. Rev Med Interne 8: 75–78

    PubMed  Google Scholar 

  17. Kjeldsen AD, Oxhoj H, Andersen PE, Green A, Vase P (2000) Prevalence of pulmonary arteriovenous malformations (PAVMs) and occurrence of neurological symptoms in patients with hereditary hemorrhagic telangiectasia (HHT). J Intern Med 248: 255–262

    Article  PubMed  Google Scholar 

  18. Swanson KL, Prakash UBS, Stanson A (1999) Pulmonary arteriovenous fistulas: Mayo Clinic experience 1982–1997. Mayo Clin Proc 74: 671–680

    PubMed  Google Scholar 

  19. White RI, Lynch-Nyhan A, Terry P, et al (1988) Pulmonary arteriovenous malformations: techniques and long-term outcome of embolotherapy. Radiology 169: 663–669

    PubMed  Google Scholar 

  20. Hewes RC, Auster M, White RI (1985) Cerebral embolism: first manifestation of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Cardiovasc Intervent Radiol 8: 151–155

    PubMed  Google Scholar 

  21. Dyer NH (1967) Cerebral abscess in hereditary hemorrhagic telangiectasia. J Neurol Neurosurg Psychiatry 30: 563–567

    PubMed  Google Scholar 

  22. Ptlik SD, Chitkara R, Tafreshi M, Giron JA (1984) Cerebral abscess in hereditary hemorrhagic telangiectasia. NY State J Med 84: 197–201

    Google Scholar 

  23. Fulbright RK, Chaloupka JC, Putman CM, et al (1998) MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR 19: 477–484

    CAS  Google Scholar 

  24. Maher CO, Piepgras DG, Brown RD Jr, Friedman JA, Pollock BE (2001) Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 32: 877–882

    CAS  PubMed  Google Scholar 

  25. Putman CM, Chaloupka JC, Fulbrigth RK, Awad IA, White RI Jr, Fayad PB (1996) Exceptional multiplicity of cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu Syndrome). AJNR 17: 1733–1742

    CAS  Google Scholar 

  26. Matsubara S, Manzia JL, Ter Brugge K, Willisnky RA, Montanera W, Faughnan ME (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformation associated hereditary hemorrhagic telangiectasia. AJNR 21: 1016–1020

    CAS  Google Scholar 

  27. Djindjian R, Hurth R, Rey A, Houdart R (1974) Spinal angiomas in Rendu-Osler disease. J Neuroradiol 1: 289–350

    Google Scholar 

  28. 28 Mandzia JL, Ter Brugge K, Faughnan ME, Hyland RH (1999) Spinal cord arteriovenous malformations in two patients with hereditary hemorrhagic telangiectasia. Child’s Nerv System 15: 80–83

  29. Merry GS, Appleton DB ( 1976) Spinal arterial malformation in a child with hereditary hemorrhagic telangiectasia. J Neurosurg 44: 613–616

    PubMed  Google Scholar 

  30. Emery DJ, Willinsky RA, Burrows PE, Armstrong D, Montanera W TerBrugge KG (1998) Pediatric spinal arteriovenous malformations: angioarchitecture and endovascular treatment. Intervent Neuroradiol 4: 127–139

    Google Scholar 

  31. Halbach VV, Higashida RT, Dowd CF, Fraser KW, Edwards MS, Barnwell SL (1993) Treatment of giant intradural (perimedullary) arteriovenous fistulas. Neurosurgery 33: 972–980

    PubMed  Google Scholar 

  32. Ricolfi F, Gobin PY, Aymard A, Brunelle F, Gaston A, Merland JJ (1997) Giant perimedullary arteriovenous fistulas of the spine : clinical and radiological features and endovascular treatment. AJNR 18: 677–687

    CAS  Google Scholar 

  33. Rosenblum B, Oldfield EH, Doppman JL, DiChiro G (1987) Spinal arteriovenous malformations : a comparison of dural arteriovenous fistulae and intradural AVM’s in 81 patients. J Neurosurg 67: 795–802

    CAS  PubMed  Google Scholar 

  34. Mourier KL, Gobin YP, George B, Lot G, Merland JJ (1993) Intradural perimedullary arteriovenous fistulae: results of surgical endovascular treatment in a series of 35 cases. Neurosurgery 32: 885–891

    PubMed  Google Scholar 

  35. Hodes JE, Merland JJ, Casasco A, Houdart E, Reizine D (1994) Spinal vascular malformations: endovascular therapy. Neurosurg Clin North Am 5: 497–509

    CAS  Google Scholar 

  36. Barrow DL, Colohan AR, Dawson R (1994) Intradural perimedullary arteriovenous fistulas (type IV spinal cord arteriovenous malformations). J Neurosurg 81: 221–229

    PubMed  Google Scholar 

  37. Niimi Y, Berenstein A (1999) Endovascular treatment of spinal vascular malformations. Neurosurg Clin North Am 10: 47–71

    CAS  Google Scholar 

  38. Berenstein A, Lasjaunias P (1995) Surgical neuroangiography, Vol.5. Springer-Verlag, Berlin, p. 1

  39. Morgan M K(1999) Outcome from treatment for spinal arteriovenous malformation. Neurosurg Clin North Am 10: 113–119

    CAS  Google Scholar 

  40. Rosenow J, Rawanduzy A, Weitzner I Jr, Couldwell WT (2000) Type IV spinal arteriovenous malformation in association with familial pulmonary vascular malformations: case report. Neurosurgery 46: 1240–1245

    PubMed  Google Scholar 

  41. Nagashima C; Miyoshi A, Nagashima R, Ogawa M; Enomoto K, Watabe T (1996) Spinal giant intradural perimedullary arteriovenous fistula: clinical and neuroradiological study in one case and review of literature. Surg Neurol 45: 524–532

    Article  PubMed  Google Scholar 

  42. Biondi A, Merland JJ, Reizine D, et al (1990) Embolization with particles in thoracic intramedullary arteriovenous malformations: long-term angiographic and clinical results. Radiology 177: 651–658

    PubMed  Google Scholar 

  43. Hall WA, Oldfield EH, Doppman JL (1989) Recanalization of spinal arteriovenous malformations following embolization. J Neurosurg 70: 714–720

    CAS  PubMed  Google Scholar 

  44. Guglielmi G, Viñuela F, Dion J, Duckwiler G (1991) Electrothrombosis of saccular aneurysms via endovascular approach. Part 2: Preliminary clinical experience. J Neurosurg 75: 8–14

    CAS  PubMed  Google Scholar 

  45. Tournade A, Courtheoux P, Sengel C, Ozgulle S, Tajahmady T (1997) Saccular intracranial aneurysms: endovascular treatment with mechanical detachable spiral coils. Radiology 202: 481–486

    PubMed  Google Scholar 

  46. Tournade A, Riquelme C, Musacchio M, Mont’Alverne F (2001) Endovascular treatment of berry intracranial aneurysms using a new detachable coils system (DCS). Intervent Neuroradiol 7: 93–102

    Google Scholar 

  47. Mont’Alverne F, Tournade A, Riquelme C, Musacchio M. (2002) Multiple intracranial aneurysms: angiographic study and endovascular treatment Intervent Neuroradiol 8: 95–106

  48. Musacchio M, Mont’Alverne F, Belzile F, Tolentino V, Riquelme C, Tournade A (2002) Endovascular treatment using mechanical detachable coils of dural fistulas of the skull base by venous retrograde approach: preliminary study about three cases. J Neuroradiol [Suppl]: 187

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Authors and Affiliations

  1. Interventional Neuroradiology, Centre Hospitalier Louis Pasteur, 39 avenue de la Libertè, 68024 CEDEX, Colmar, France

    F. Mont’Alverne, M. Musacchio, V. Tolentino, F. Belzile, C. Riquelme & A. Tournade

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  1. F. Mont’Alverne
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  2. M. Musacchio
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  3. V. Tolentino
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  4. F. Belzile
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  5. C. Riquelme
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  6. A. Tournade
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Correspondence to F. Mont’Alverne.

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Mont’Alverne, F., Musacchio, M., Tolentino, V. et al. Giant spinal perimedullary fistula in hereditary haemorrhagic telangiectasia: diagnosis, endovascular treatment and review of the literature. Neuroradiology 45, 830–836 (2003). https://doi.org/10.1007/s00234-003-1044-7

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