, Volume 47, Issue 12, pp 946–954

Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations

Results in 31 patients
  • T. Krings
  • S.M. Chng
  • A. Ozanne
  • H. Alvarez
  • G. Rodesch
  • P.L. Lasjaunias
Interventional Neuroradiology


Hereditary hemorrhagic telangiectasia (HHT) is a heterogeneous disease that can present with a variety of clinical manifestations. The neurovascular complications of this disease, especially in children, may be potentially devastating. The purpose of this article was to review the therapeutic results of endovascular treatment of neurovascular malformations in children. A total of 31 patients under the age of 16 were included in this retrospective analysis. All children were treated in a single center. Twenty children presented with 28 arteriovenous (AV) fistulae, including seven children with spinal AV fistulae and 14 children with cerebral AV fistulae (one child had both a spinal and cerebral fistulae). Eleven children had small nidus-type AV malformations. All embolizations were performed employing superselective glue injection. Follow-up ranged between 3 and 168 months (mean 66 months). A total of 115 feeding vessels were embolized in 81 single sessions, resulting in a mean overall occlusion rate of the malformation of 77.4% (ranging from 30 to 100%). Two of 31 patients (6.5%) died as a direct complication of the embolization procedure; two patients (6.5%) had a persistent new neurological deficit; eight patients (26.7%) were clinically unchanged following the procedure; in 13 patients (41.9%) an amelioration of symptoms but no cure could be achieved; and six patients (19.4%) were completely asymptomatic following the endovascular procedure. In the surviving patients morphological complete occlusion was possible in twelve patients (38.7%); therapy is still not completed in six patients. Since the natural history of neurovascular manifestations of HHT in children is associated with high morbidity and mortality, therapeutic intervention is mandatory. In most instances a morphological target can be identified; therefore, even partial and staged treatment can be performed. Our results demonstrate that in 27/31 patients these targeted interventions resulted in stabilizing the disease, ameliorating the symptoms or even complete resolution. The endovascular approach employing glue as the embolizing agent represents a safe and efficient way to control the neurovascular phenotypes of HHT.


Hereditary hemorrhagic telangiectasia Rendu–Osler–Weber disease Cerebral arteriovenous malformations Cerebral arteriovenous fistulae Embolization 


  1. 1.
    Bideau A, Plauchu H, Brunet G, Robert J (1989) Epidemiological investigation of Rendu–Osler disease in France: its geographical distribution and prevalence. Population 44:3–22PubMedGoogle Scholar
  2. 2.
    Kjeldsen AD, Vase P, Green A (1999) Hereditary hemorrhagictelangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med 245:31–39CrossRefPubMedGoogle Scholar
  3. 3.
    Dakeishi M, Shioya T, Wada Y, et al (2002) Genetic epidemiology of hereditary hemorrhagic telangiectasia in a local community in the northern part of Japan. Hum Mutat 19:140–148CrossRefPubMedGoogle Scholar
  4. 4.
    Marchuk DA, Srinivasan S, Squire TL, Zawistowski JS (2003) Vascular morphogenesis: tales of two syndromes. Hum Mol Genet 12 (Spec No 1):R97–R112CrossRefPubMedGoogle Scholar
  5. 5.
    Attisano L, Carcamo J, Ventura F, Weis FM, Massague J, Wrana JL (1993) Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors. Cell 75:671–680CrossRefPubMedGoogle Scholar
  6. 6.
    Shovlin CL, Hughes JM (1996) Hereditary hemorrhagic telangiectasia; author reply 331–332. N Engl J Med 334:330–331CrossRefGoogle Scholar
  7. 7.
    Shovlin CL, Guttmacher AE, Buscarini E, et al (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu–Osler–Weber syndrome). Am J Med Genet 91:66–67CrossRefPubMedGoogle Scholar
  8. 8.
    Begbie ME, Wallace GM, Shovlin CL (2003) Hereditary hemorrhagictelangiectasia (Osler–Weber–Rendu syndrome): a view from the 21st century. Postgrad Med J 79:18–24CrossRefPubMedGoogle Scholar
  9. 9.
    Fulbright RK, Chaloupka JC, Putman CM, et al (1998) MR of hereditary hemorrhagic telangiectasia: prevalence and spectrum of cerebrovascular malformations. AJNR Am J Neuroradiol 19:477–484PubMedGoogle Scholar
  10. 10.
    Garcia-Monaco R, Taylor W, Rodesch G, et al (1995) Pial arteriovenous fistula in children as presenting manifestation of Rendu–Osler–Weber disease. Neuroradiology 37:60–64Google Scholar
  11. 11.
    Ondra SL, Troupp H, George ED, Schwab K (1990) The natural history of symptomatic arteriovenous malformations of the brain: a 24-year follow-up assessment. J Neurosurg 73:387–391PubMedGoogle Scholar
  12. 12.
    Graf CJ, Perret GE, Torner JC (1983) Bleeding from cerebral arteriovenous malformations as part of their natural history. J Neurosurg 58:331–337PubMedGoogle Scholar
  13. 13.
    Yoshida Y, Weon YC, Sachet M, et al (2004) Posterior cranial fossa single-hole arteriovenous fistulae in children: 14 consecutive cases. Neuroradiology 46:474–481Google Scholar
  14. 14.
    Yasargil MG (1987) Pathological considerations. In: Yasargil MG (ed) Microneurosurgery, vol 3a. Thieme, Stuttgart, pp 63–64Google Scholar
  15. 15.
    Matsubara S, Mandzia JL, ter Brugge K, Willinsky RA, Faughnan ME, Manzia JL (2000) Angiographic and clinical characteristics of patients with cerebral arteriovenous malformations associated with hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 21:1016–1020PubMedGoogle Scholar
  16. 16.
    Mahadevan J, Ozanne A, Yoshida Y, et al (2004) Hereditary hemorrhagictelangiectasia Cerebrospinal localization in adults and children Review of 39 cases. Interv Neuroradiol 10:27–35Google Scholar
  17. 17.
    Putman CM, Chaloupka JC, Fulbright 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 Am J Neuroradiol 17:1733–1742PubMedGoogle Scholar
  18. 18.
    Krings T, Ozanne A, Chng SM, Alvarez H, Rodesch G, Lasjaunias P (2005) Neurovascular phenotypes in hereditary hemorrhagictelangiectasia patients according to age. Review of 50 consecutive patients aged 1 day to 60 years. Neuroradiology (in press)Google Scholar
  19. 19.
    Willinsky R, Lasjaunias P, Comoy J, Pruvost P (1988) Cerebral micro arteriovenous malformations (mAVMs) Review of 13 cases. Acta Neurochir (Wien) 91:37–41CrossRefGoogle Scholar
  20. 20.
    Mazighi M, Porter P, Alvarez H, et al (2000) Associated cererbal and spinal AVM in infant and adult Report of two cases treated by endovascular approach. Interv Neuroradiol 6:321–326Google Scholar
  21. 21.
    Lasjaunias P (2000) Segmental identiy and vulnerability in cerebral arteries. Interv Neuroradiol 6:113–124Google Scholar
  22. 22.
    Easey AJ, Wallace GM, Hughes JM, Jackson JE, Taylor WJ, Shovlin CL (2003) Should asymptomatic patients with hereditary hemorrhagictelangiectasia (HHT) be screened for cerebral vascular malformations? Data from 22,061 years of HHT patient life. J Neurol Neurosurg Psychiatry 74:743–748CrossRefPubMedGoogle Scholar
  23. 23.
    Maher CO, Piepgras DG, Brown RD Jr, Friedman JA, Pollock BE (2001) Cerebrovascular manifestations in 321 cases of hereditary hemorrhagic telangiectasia. Stroke 32:877–882PubMedGoogle Scholar
  24. 24.
    Willemse RB, Mager JJ, Westermann CJ, Overtoom TT, Mauser H, Wolbers JG (2000) Bleeding risk of cerebrovascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg 92:779–784PubMedGoogle Scholar
  25. 25.
    Morgan T, McDonald J, Anderson C, et al (2002) Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler–Weber–Rendu syndrome). Pediatrics 109:E12CrossRefPubMedGoogle Scholar
  26. 26.
    Fleetwood IG, Steinberg GK (2002) Arteriovenous malformations. Lancet 359:863–873CrossRefPubMedGoogle Scholar
  27. 27.
    Pikus HJ, Beach ML, Harbaugh RE (1998) Microsurgical treatment of arteriovenous malformations: analysis and comparison with stereotactic radiosurgery. J Neurosurg 88:641–646PubMedGoogle Scholar
  28. 28.
    Maraire JN, Awad IA (1995) Intracranial cavernous malformations: lesion behavior and management strategies. Neurosurgery 37:591–605PubMedGoogle Scholar

Copyright information

© Springer-Verlag 2005

Authors and Affiliations

  • T. Krings
    • 1
    • 2
  • S.M. Chng
    • 1
  • A. Ozanne
    • 1
  • H. Alvarez
    • 1
  • G. Rodesch
    • 3
  • P.L. Lasjaunias
    • 1
  1. 1.Service de Neuroradiologie Diagnostique et ThérapeutiqueHôpital de BicetreParisFrance
  2. 2.Department of Neuroradiology and NeurosurgeryUniversity Hospital of the Technical UniversityAachenGermany
  3. 3.Service Neuroradiologie Diagnostique et ThérapeutiqueHôpital FochSuresnes, ParisFrance

Personalised recommendations