Download PDF
Journal of Pediatric Neurology 2020; 18(06): 279-285
DOI: 10.1055/s-0040-1715499
Review Article

Cerebral Arteriovenous Malformations in Pediatric Patients with Hereditary Hemorrhagic Telangiectasia: Re-evaluating Appearance, Bleeding Risk, and Treatment Necessity in a Selective Meta-analysis

Oliver Mueller
1   Department of Neurosurgery, University of Essen, Essen, Germany
2   Department of Neurosurgery, Dortmund Hospital, Dortmund, Germany
,
Ekkehard Kasper
3   Division of Neurosurgery, Hamilton General Hospital, Hamilton, Canada
,
Freya Droege
4   Department of Oto-Rhino-Laryngology, University of Essen, Essen, Germany
,
Sophia Goericke
5   Institute of Radiology, Neuroradiology and Interventional Radiology, University of Essen, Essen, Germany
,
Klaus-Peter Stein
1   Department of Neurosurgery, University of Essen, Essen, Germany
6   Department of Neurosurgery, University Hospital Magdeburg, Magdeburg, Germany
,
Ulrich Sure
1   Department of Neurosurgery, University of Essen, Essen, Germany
› Author Affiliations
› Further Information
    Permissions and Reprints

Abstract

Pediatric patients suffering from cerebral nidal arteriovenous malformations are a unique population due to the rare occurrence of the disease. Diagnosis of hereditary hemorrhagic telangiectasia (HHT) in children is a rare event and mainly restricted to coincidental detection from screening of possibly afflicted family members. In patients with HHT, it is well known that the incidence of cerebral vascular malformations (CVMs) is higher than expected when compared with the nonafflicted population. Even though CVMs comprise a variety of different distinct anatomical and radiographic entities (e.g., capillary telangiectasia, nidal arteriovenous malformation [AVM], cavernous malformation, dural or pial as well as mixed fistula, and vein of Galen malformation), they are mostly summarized and analyzed all in one category due to the low number of individual cases identified in single centers. Nevertheless, the best treatment algorithm will likely vary significantly between different CVMs as does the clinical presentation and the natural course of the CVM. It is therefore the objective of this article to focus on nidal AVMs in pediatric patients suffering from HHT. To this end, we performed a systematic selective literature research to estimate incidence, clinical and radiological appearance, as well as classification according to established grading system, and to evaluate the necessity of treatment of these lesions in light of their respective outcomes. Our line of arguments explains why we recommend to follow these lesions expectantly and suggest to keep pediatric patients under surveillance with sequential scans until they reach adulthood.

Keywords

arteriovenous malformation - angiography - pediatric - hemorrhage


Publication History

Received: 11 October 2019

Accepted: 15 February 2020

Article published online:
31 August 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Stuttgart · New York

 

  • References

  • 1 Guttmacher AE, Marchuk DA, White Jr RI. Hereditary hemorrhagic telangiectasia. N Engl J Med 1995; 333 (14) 918-924
    CrossrefPubMedGoogle Scholar
  • 2 Shovlin CL, Guttmacher AE, Buscarini E. et al. Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 2000; 91 (01) 66-67
    CrossrefPubMedGoogle Scholar
  • 3 Cho D, Kim S, Kim M. et al. Two cases of high output heart failure caused by hereditary hemorrhagic telangiectasia. Korean Circ J 2012; 42 (12) 861-865
    CrossrefPubMedGoogle Scholar
  • 4 Faughnan ME, Palda VA, Garcia-Tsao G. et al; HHT Foundation International - Guidelines Working Group. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 2011; 48 (02) 73-87
    CrossrefPubMedGoogle Scholar
  • 5 Nishida T, Faughnan ME, Krings T. et al. Brain arteriovenous malformations associated with hereditary hemorrhagic telangiectasia: gene-phenotype correlations. Am J Med Genet A 2012; 158A (11) 2829-2834
    CrossrefPubMedGoogle Scholar
  • 6 Darsaut TE, Guzman R, Marcellus ML. et al. Management of pediatric intracranial arteriovenous malformations: experience with multimodality therapy. Neurosurgery 2011; 69 (03) 540-556 , discussion 556
    CrossrefPubMedGoogle Scholar
  • 7 Mohr JP, Parides MK, Stapf C. et al; international ARUBA investigators. Medical management with or without interventional therapy for unruptured brain arteriovenous malformations (ARUBA): a multicentre, non-blinded, randomised trial. Lancet 2014; 383 (9917): 614-621
    CrossrefPubMedGoogle Scholar
  • 8 Stein KP, Huetter BO, Goericke S. et al. Cerebral arterio-venous malformations in the paediatric population: angiographic characteristics, multimodal treatment strategies and outcome. Clin Neurol Neurosurg 2018; 164: 164-168
    CrossrefPubMedGoogle Scholar
  • 9 Spetzler RF, Ponce FA. A 3-tier classification of cerebral arteriovenous malformations. Clinical article. J Neurosurg 2011; 114 (03) 842-849
    CrossrefPubMedGoogle Scholar
  • 10 Solomon RA, Connolly Jr ES. Arteriovenous malformations of the brain. N Engl J Med 2017; 376 (19) 1859-1866
    CrossrefPubMedGoogle Scholar
  • 11 Josephson CB, Bhattacharya JJ, Counsell CE. et al; Scottish Audit of Intracranial Vascular Malformations (SAIVMs) steering committee and collaborators. Seizure risk with AVM treatment or conservative management: prospective, population-based study. Neurology 2012; 79 (06) 500-507
    CrossrefPubMedGoogle Scholar
  • 12 Stapf C, Mast H, Sciacca RR. et al. Predictors of hemorrhage in patients with untreated brain arteriovenous malformation. Neurology 2006; 66 (09) 1350-1355
    CrossrefPubMedGoogle Scholar
  • 13 Stein KP, Wanke I, Forsting M. et al. Associated aneurysms in supratentorial arteriovenous malformations: impact of aneurysm size on haemorrhage. Cerebrovasc Dis 2015; 39 (02) 122-129
    CrossrefPubMedGoogle Scholar
  • 14 Stein KP, Wanke I, Forsting M. et al. Associated aneurysms in infratentorial arteriovenous malformations: role of aneurysm size and comparison with supratentorial lesions. Cerebrovasc Dis 2016; 41 (5-6): 219-225
    CrossrefPubMedGoogle Scholar
  • 15 Fullerton HJ, Wu YW, Zhao S, Johnston SC. Risk of stroke in children: ethnic and gender disparities. Neurology 2003; 61 (02) 189-194
    CrossrefPubMedGoogle Scholar
  • 16 Lo WD, Lee J, Rusin J, Perkins E, Roach ES. Intracranial hemorrhage in children: an evolving spectrum. Arch Neurol 2008; 65 (12) 1629-1633
    PubMedGoogle Scholar
  • 17 Beslow LA, Licht DJ, Smith SE. et al. Predictors of outcome in childhood intracerebral hemorrhage: a prospective consecutive cohort study. Stroke 2010; 41 (02) 313-318
    CrossrefPubMedGoogle Scholar
  • 18 Ding D, Starke RM, Kano H. et al. International multicenter cohort study of pediatric brain arteriovenous malformations. Part 1: predictors of hemorrhagic presentation. J Neurosurg Pediatr 2017; 19 (02) 127-135
    CrossrefPubMedGoogle Scholar
  • 19 Bervini D, Morgan MK, Ritson EA, Heller G. Surgery for unruptured arteriovenous malformations of the brain is better than conservative management for selected cases: a prospective cohort study. J Neurosurg 2014; 121 (04) 878-890
    CrossrefPubMedGoogle Scholar
  • 20 Bristol RE, Albuquerque FC, Spetzler RF, Rekate HL, McDougall CG, Zabramski JM. Surgical management of arteriovenous malformations in children. J Neurosurg 2006; 105 (02) 88-93
    PubMedGoogle Scholar
  • 21 Blauwblomme T, Bourgeois M, Meyer P. et al. Long-term outcome of 106 consecutive pediatric ruptured brain arteriovenous malformations after combined treatment. Stroke 2014; 45 (06) 1664-1671
    CrossrefPubMedGoogle Scholar
  • 22 Gross BA, Storey A, Orbach DB, Scott RM, Smith ER. Microsurgical treatment of arteriovenous malformations in pediatric patients: the Boston Children's Hospital experience. J Neurosurg Pediatr 2015; 15 (01) 71-77
    CrossrefPubMedGoogle Scholar
  • 23 Gamboa NT, Joyce EJ, Eli I. et al. Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. J Clin Neurosci 2018; 51: 22-28
    CrossrefPubMedGoogle Scholar
  • 24 Morgan T, McDonald J, Anderson C. et al. Intracranial hemorrhage in infants and children with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu syndrome). Pediatrics 2002; 109 (01) E12
    CrossrefPubMedGoogle Scholar
  • 25 Brinjikji W, Iyer VN, Sorenson T, Lanzino G. Cerebrovascular manifestations of hereditary hemorrhagic telangiectasia. Stroke 2015; 46 (11) 3329-3337
    CrossrefPubMedGoogle Scholar
  • 26 Sure U, Battenberg E, Dempfle A, Tirakotai W, Bien S, Bertalanffy H. Hypoxia-inducible factor and vascular endothelial growth factor are expressed more frequently in embolized than in nonembolized cerebral arteriovenous malformations. Neurosurgery 2004; 55 (03) 663-669 , discussion 669–670
    CrossrefPubMedGoogle Scholar
  • 27 Du R, Hashimoto T, Tihan T, Young WL, Perry V, Lawton MT. Growth and regression of arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg 2007; 106 (03) 470-477
    CrossrefPubMedGoogle Scholar
  • 28 Shimoda Y, Osanai T, Nakayama N. et al. De novo arteriovenous malformation in a patient with hereditary hemorrhagic telangiectasia. J Neurosurg Pediatr 2016; 17 (03) 330-335
    CrossrefPubMedGoogle Scholar
  • 29 Sure U, Butz N, Schlegel J. et al. Endothelial proliferation, neoangiogenesis, and potential de novo generation of cerebrovascular malformations. J Neurosurg 2001; 94 (06) 972-977
    CrossrefPubMedGoogle Scholar
  • 30 Cloft HJ. Spontaneous regression of cerebral arteriovenous malformation in hereditary hemorrhagic telangiectasia. AJNR Am J Neuroradiol 2002; 23 (06) 1049-1050
    PubMedGoogle Scholar
  • 31 Leung KM, Agid R, terBrugge K. Spontaneous regression of a cerebral arteriovenous malformation in a child with hereditary hemorrhagic telangiectasia. Case report. J Neurosurg 2006; 105 (05) 428-431
    PubMedGoogle Scholar
  • 32 Pawlikowska L, Nelson J, Guo DE. et al; Brain Vascular Malformation Consortium HHT Investigator Group. The ACVRL1 c.314-35A>G polymorphism is associated with organ vascular malformations in hereditary hemorrhagic telangiectasia patients with ENG mutations, but not in patients with ACVRL1 mutations. Am J Med Genet A 2015; 167 (06) 1262-1267
    CrossrefPubMedGoogle Scholar
  • 33 Pawlikowska L, Nelson J, Guo DE. et al; Brain Vascular Malformation Consortium HHT Investigator Group. Association of common candidate variants with vascular malformations and intracranial hemorrhage in hereditary hemorrhagic telangiectasia. Mol Genet Genomic Med 2018; 6 (03) 350-356
    CrossrefPubMedGoogle Scholar
  • 34 Palagallo GJ, McWilliams SR, Sekarski LA, Sharma A, Goyal MS, White AJ. The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol 2017; 38 (02) 383-386
    CrossrefPubMedGoogle Scholar
  • 35 Lang SS, Beslow LA, Bailey RL. et al. Follow-up imaging to detect recurrence of surgically treated pediatric arteriovenous malformations. J Neurosurg Pediatr 2012; 9 (05) 497-504
    CrossrefPubMedGoogle Scholar