Skip to main content
SpringerLink
Log in

The Neurosurgical Manifestations of Marfan Syndrome

  • Chapter
  • First Online:
Diagnosis and Management of Marfan Syndrome

Abstract

Antoine-Bernard Marfan first described the skeletal manifestations of Marfan’s syndrome (MFS) in 1896. Since then, a variety of associated clinical manifestations have been identified and numerous diagnostic criterions for MFS proposed. Following the identification of FBN1 as a causal gene for MFS, more stringent diagnostic criteria were put forth, referred to as the ‘Ghent nosology’ [1]. This employed a set of ‘major’ and ‘minor’ manifestations of MFS in numerous tissues. It has been criticised as difficult to use in children, that it includes non-specific physical manifestations and has poorly validated diagnostic thresholds. To address these issues a ‘revised Ghent nosology’ was proposed [2] based on clinical characteristics of large published patient cohorts and expert opinion. These systems include systemic features relevant to neurosurgical practice, most notably the identification of dural ectasia (DE). This chapter focuses on the diagnosis and management of this condition and discusses some of the other possible spinal and cerebro-vascular sequelae of MFS relevant to neurosurgical practice.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 129.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 179.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet [Internet]. 1996 [cited 2014 Feb 15];62(4):417–26. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8723076.

  2. Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet [Internet]. 2010 [cited 2014 Jan 29];47(7):476–85. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20591885.

    Google Scholar 

  3. Avivi E, Arzi H, Paz L, Caspi I, Chechik A. Skeletal manifestations of Marfan syndrome. Isr Med Assoc J [Internet]. 2008 [cited 2014 Feb 13];10(3):186–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18494229.

  4. Pyeritz RE, Fishman EK, Bernhardt BA, Siegelman SS. Dural ectasia is a common feature of the Marfan syndrome. Am J Hum Genet [Internet]. 1988 [cited 2014 Feb 12];43(5):726–32. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1715546&tool=pmcentrez&rendertype=abstract.

  5. Mesfin A, Ahn NU, Carrino JA, Sponseller PD. Ten-year clinical and imaging follow-up of dural ectasia in adults with Marfan syndrome. Spine J [Internet]. Elsevier Inc; 2013 [cited 2014 Feb 11];13(1):62–7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23218825.

  6. Gajeski BL, Kettner NW, Awwad EE, Boesch RJ. Neurofibromatosis type I: clinical and imaging features of Von Recklinghausen’s disease. J Manipulative Physiol Ther [Internet]. 2003 [cited 2014 Jan 24];26(2):116–27. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12584510.

    Google Scholar 

  7. Lan HH-C, Chen D-Y, Chen CC-C, Lan J-L, Hsieh C-W. Combination of transverse myelitis and arachnoiditis in cauda equina syndrome of long-standing ankylosing spondylitis: MRI features and its role in clinical management. Clin Rheumatol [Internet]. 2007 [cited 2014 Feb 13];26(11):1963–7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17332972.

  8. Ahn NU, Ahn UM, Nallamshetty L, Springer BD, Buchowski JM, Funches L, et al. Cauda equina syndrome in ankylosing spondylitis (the CES-AS syndrome): meta-analysis of outcomes after medical and surgical treatments. J Spinal Disord [Internet]. 2001 [cited 2014 Feb 13];14(5):427–33. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11586143.

    Google Scholar 

  9. Villeirs GM, Van Tongerloo AJ, Verstraete KL, Kunnen MF, De Paepe AM. Widening of the spinal canal and dural ectasia in Marfan’s syndrome: assessment by CT. Neuroradiology [Internet]. 1999 [cited 2014 Feb 13];41(11):850–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10602862.

  10. Adès LC, Haan EA, Colley AF, Richard RI. Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome. J Med Genet [Internet]. 1996 [cited 2014 Feb 13];33(8):665–71. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050701&tool=pmcentrez&rendertype=abstract.

  11. Loeys BL, Chen J, Neptune ER, Judge DP, Podowski M, Holm T, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet [Internet]. 2005 [cited 2014 Jan 20];37(3):275–81. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15731757.

    Google Scholar 

  12. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. Aneurysm syndromes caused by mutations in the TGF-β receptor. N Engl J Med [Internet]. 2006 [cited 2014 Feb 7];355(8):788–98. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16928994.

  13. Fishman EK, Zinreich SJ, Kumar AJ, Rosenbaum AE, Siegelman SS. Sacral abnormalities in Marfan syndrome. J Comput Assist Tomogr [Internet]. 1983 [cited 2014 Feb 12];7(5):851–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/6224826.

  14. Jones KB, Sponseller PD, Erkula G, Sakai L, Ramirez F, Dietz HC, et al. Symposium on the musculoskeletal aspects of Marfan syndrome: meeting report and state of the science. J Orthop Res [Internet]. 2007 [cited 2014 Feb 12];25(3):413–22. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17143900.

    Google Scholar 

  15. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature [Internet]. 1991 [cited 2014 Feb 12];352(6333):337–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1852208.

    Google Scholar 

  16. Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Kuszyk BS, Zinreich SJ. Dural ectasia is associated with back pain in Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 2000;25(12):1562–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10851107.

  17. Foran JR, Pyeritz RE, Dietz HC, Sponseller PD. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A [Internet]. 2005 [cited 2014 Feb 12];134A(1):58–65. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15690402.

    Google Scholar 

  18. Sponseller PD, Hobbs W, Riley LH, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. J Bone Joint Surg Am [Internet]. 1995 [cited 2014 Feb 12];77(6):867–76. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7782359.

  19. Duncan RW, Esses S. Marfan syndrome with back pain secondary to pedicular attenuation. A case report. Spine (Phila Pa 1976) [Internet]. 1995 May 15 [cited 2014 Feb 12];20(10):1197–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7638665.

  20. Nallamshetty L, Ahn NU, Ahn UM, Nallamshetty HS, Rose PS, Buchowski JM, et al. Dural ectasia and back pain: review of the literature and case report. J Spinal Disord Tech [Internet]. 2002 [cited 2014 Feb 12];15(4):326–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12177551.

    Google Scholar 

  21. Smith MD. Large sacral dural defect in Marfan syndrome. A case report. J Bone Joint Surg Am [Internet]. 1993 [cited 2014 Feb 12];75(7):1067–70. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8335666.

  22. Stern WE. Dural ectasia and the Marfan syndrome. J Neurosurg [Internet]. 1988 [cited 2014 Feb 12];69(2):221–7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/3392569.

    Google Scholar 

  23. Raftopoulos C, Pierard GE, Rétif C, Braude P, Brotchi J. Endoscopic cure of a giant sacral meningocele associated with Marfan’s syndrome: case report. Neurosurgery [Internet]. 1992 [cited 2014 Feb 12];30(5):765–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/1584392.

  24. Strand RD, Eisenberg HM. Anterior sacral meningocele in association with Marfan’s syndrome. Radiology [Internet]. 1971 [cited 2014 Feb 12];99(3):653–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/5578713.

  25. Sparling MJ, Bartleson JD, McLeod RA, Cohen MD, Ginsburg WW. Magnetic resonance imaging of arachnoid diverticula associated with cauda equina syndrome in ankylosing spondylitis. J Rheumatol [Internet]. 1989 [cited 2014 Feb 12];16(10):1335–7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/2509695.

  26. Abelló R, Rovira M, Sanz MP, Gili J, Capdevila A, Escalada J, et al. MRI and CT of ankylosing spondylitis with vertebral scalloping. Neuroradiology [Internet]. 1988 [cited 2014 Feb 12];30(3):272–5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/3405419.

  27. Voermans NC, Dijk KGJ van, Bos MM, Geus-Oei L-F de, Verrips A, Lindert EJ van. Postural headache in marfan syndrome associated with spinal cysts and liquor hypotension. Neuropediatrics [Internet]. 2009 [cited 2014 Feb 15];40(4):201–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/20135580.

  28. Kangath RV, Midturi J. An unusual case of E coli meningitis in a patient with Marfan’s syndrome. BMJ Case Rep [Internet]. 2013 [cited 2014 Feb 11];2013:1–2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23462652.

    Google Scholar 

  29. Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, et al. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med [Internet]. 2000 [cited 2014 Feb 12];2(3):173–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11256662.

    Google Scholar 

  30. Knirsch W, Kurtz C, Häffner N, Binz G, Heim P, Winkler P, et al. Dural ectasia in children with Marfan syndrome: a prospective, multicenter, patient-control study. Am J Med Genet A [Internet]. 2006 [cited 2014 Feb 12];140(7):775–81. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16523504.

    Google Scholar 

  31. Ahn NU, Nallamshetty L, Ahn UM, Buchowski JM, Rose PS, Garrett ES, et al. Dural ectasia and conventional radiography in the Marfan lumbosacral spine. Skeletal Radiol [Internet]. 2001 [cited 2014 Feb 13];30(6):338–45. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11465775.

  32. Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJ, van der Wall EE, Smit R, et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology [Internet]. 2001;220(2):514–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11477262.

    Google Scholar 

  33. Oren M, Lorber B, Lee SH, Truex RC, Gennaro AR. Anterior sacral meningocele: report of five cases and review of the literature. Dis Colon Rectum [Internet]. 1977 [cited 2014 Feb 15];20(6):492–505. Available from: http://www.ncbi.nlm.nih.gov/pubmed/143361.

    Google Scholar 

  34. Lundby R, Rand-Hendriksen S, Hald JK, Lilleås FG, Pripp a H, Skaar S, et al. Dural ectasia in Marfan syndrome: a case control study. AJNR Am J Neuroradiol [Internet]. 2009 [cited 2014 Feb 11];30(8):1534–40. Available from: http://www.ncbi.nlm.nih.gov/pubmed/19461064.

    Google Scholar 

  35. Acosta FL, Quinones-Hinojosa A, Schmidt MH, Weinstein PR. Diagnosis and management of sacral Tarlov cysts. Case report and review of the literature. Neurosurg Focus [Internet]. 2003 [cited 2014 Feb 15];15(2):E15. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15350046.

  36. Habermann CR, Weiss F, Schoder V, Cramer MC, Kemper J, Wittkugel O, et al. Radiology MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children adolescents, and young adults. Radiology. 2005;234(2):535–41.

    Article  PubMed  Google Scholar 

  37. Rose PS, Levy HP, Ahn NU, Sponseller PD, Magyari T, Davis J, et al. A comparison of the Berlin and Ghent nosologies and the influence of dural ectasia in the diagnosis of Marfan syndrome. Genet Med [Internet]. 2000 [cited 2014 Feb 15];2(5):278–82. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11399208.

    Google Scholar 

  38. Fattori R, Nienaber CA, Descovich B, Ambrosetto P, Reggiani LB, Pepe G, et al. Importance of dural ectasia in phenotypic assessment of Marfan’s syndrome. Lancet [Internet]. 1999 [cited 2014 Feb 12];354(9182):910–3. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10489951.

    Google Scholar 

  39. Weigang E, Ghanem N, Chang X-C, Richter H, Frydrychowicz A, Szabó G, et al. Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin Radiol [Internet]. 2006 [cited 2014 Feb 15];61(11):971–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17018311.

    Google Scholar 

  40. Weir B. Leptomeningeal cysts in congenital ectopia lentis. Case report. J Neurosurg [Internet]. 1973 [cited 2014 Feb 12];38(5):650–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/4711641.

    Google Scholar 

  41. Cilluffo JM, Gomez MR, Reese DF, Onofrio BM, Miller RH. Idiopathic (“congenital”) spinal arachnoid diverticula. Clin Diagn Surg Results. Mayo Clin Proc [Internet]. 1981 [cited 2014 Feb 12];56(2):93–101. Available from: http://www.ncbi.nlm.nih.gov/pubmed/6780735.

  42. Sponseller PD, Ahn NU, Ahn UM, Nallamshetty L, Rose PS, Kuszyk BS, et al. Osseous anatomy of the lumbosacral spine in Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 2000 [cited 2014 Feb 12];25(21):2797–802. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11064525.

  43. Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD. Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 2005 [cited 2014 Feb 12];30(3):291–3. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15682009.

  44. Jones KB, Erkula G, Sponseller PD, Dormans JP. Spine deformity correction in Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 2002 [cited 2014 Feb 12];27(18):2003–12. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12634560.

  45. Anderson FM, Burke BL. Anterior sacral meningocele. A presentation of three cases. JAMA [Internet]. 1977 [cited 2014 Feb 16];237(1):39–42. Available from: http://www.ncbi.nlm.nih.gov/pubmed/576128.

  46. Trapp C, Farage L, Clatterbuck RE, Romero FR, Rais-Bahrami S, Long DM, et al. Laparoscopic treatment of anterior sacral meningocele. Surg Neurol [Internet]. 2007 [cited 2014 Feb 15];68(4):443–8; discussion 448. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17905071.

  47. Milledge JT, Ades LC, Cooper MG, Jaumees A, Onikul E. Severe spontaneous intracranial hypotension and Marfan syndrome in an adolescent. J Paediatr Child Health [Internet]. 2005 [cited 2014 Feb 13];41(1–2):68–71. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15670230.

    Google Scholar 

  48. Schrijver I, Schievink WI, Godfrey M, Meyer FB, Francke U. Spontaneous spinal cerebrospinal fluid leaks and minor skeletal features of Marfan syndrome: a microfibrillopathy. J Neurosurg [Internet]. 2002 [cited 2014 Feb 15];96(3):483–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11883832.

    Google Scholar 

  49. Schievink WI, Meyer FB, Atkinson JL, Mokri B. Spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension. J Neurosurg [Internet]. 1996 [cited 2014 Feb 15];84(4):598–605. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8613851.

    Google Scholar 

  50. Mokri B, Maher CO, Sencakova D. Spontaneous CSF leaks: underlying disorder of connective tissue. Neurology [Internet]. 2002 [cited 2014 Feb 15];58(5):814–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11889250.

    Google Scholar 

  51. Schievink WI, Gordon OK, Tourje J. Connective tissue disorders with spontaneous spinal cerebrospinal fluid leaks and intracranial hypotension: a prospective study. Neurosurgery [Internet]. 2004 [cited 2014 Feb 5];54(1):65–70; discussion 70–1. Available from: http://www.ncbi.nlm.nih.gov/pubmed/14683542.

    Google Scholar 

  52. Schievink WI, Gordon OK, Hyland JC, Ala-Kokko L. Absence of TGFBR2 mutations in patients with spontaneous spinal CSF leaks and intracranial hypotension. J Headache Pain [Internet]. 2008 [cited 2014 Feb 15];9(2):99–102. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=3476180&tool=pmcentrez&rendertype=abstract.

  53. Liu F-C, Fuh J-L, Wang Y-F, Wang S-J. Connective tissue disorders in patients with spontaneous intracranial hypotension. Cephalalgia [Internet]. 2011 [cited 2014 Feb 5];31(6):691–5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21220378.

  54. Hall WA, Martin A, Liu H, Truwit CL. Improving diagnostic yield in brain biopsy: coupling spectroscopic targeting with real-time needle placement. J Magn Reson Imaging. 2001;13(1):12–5.

    Article  CAS  PubMed  Google Scholar 

  55. Rosser T, Finkel J, Vezina G, Majd M. Postural headache in a child with Marfan syndrome: case report and review of the literature. J Child Neurol [Internet]. 2005 [cited 2014 Feb 13];20(2):153–5. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15794185.

    Google Scholar 

  56. Albayram S, Baş A, Ozer H, Dikici S, Gulertan SY, Yuksel A. Spontaneous intracranial hypotension syndrome in a patient with marfan syndrome and autosomal dominant polycystic kidney disease. Headache [Internet]. 2008 [cited 2014 Feb 15];48(4):632–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18194297.

    Google Scholar 

  57. Cheuret E, Edouard T, Mejdoubi M, Acar P, Pienkowski C, Cances C, et al. Intracranial hypotension in a girl with Marfan syndrome: case report and review of the literature. Childs Nerv Syst [Internet]. 2008 [cited 2014 Feb 15];24(4):509–13. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17906865.

    Google Scholar 

  58. Puget S, Kondageski C, Wray A, Boddaert N, Roujeau T, Di Rocco F, et al. Chiari-like tonsillar herniation associated with intracranial hypotension in Marfan syndrome. Case report. J Neurosurg [Internet]. 2007 [cited 2014 Feb 15];106(1 Suppl):48–52. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17233313.

    Google Scholar 

  59. Ramos A, García-Uría J, Ley L, Saucedo G. Transclival cerebrospinal fluid fistula in a patient with Marfan’s syndrome. Acta Neurochir (Wien) [Internet]. 2007 [cited 2014 Feb 15];149(7):723–5; discussion 725. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17558456.

  60. Hobbs WR, Sponseller PD, Weiss AP, Pyeritz RE. The cervical spine in Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 1997 [cited 2014 Feb 13];22(9):983–9. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9152448.

  61. Herzka A, Sponseller PD, Pyeritz RE. Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases. Spine (Phila Pa 1976) [Internet]. 2000 [cited 2014 Feb 13];25(4):524–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/10707402.

  62. Yetman AT, Bornemeier RA, McCrindle BW. Long-term outcome in patients with Marfan syndrome: is aortic dissection the only cause of sudden death? J Am Coll Cardiol [Internet]. 2003 [cited 2014 Feb 13];41(2):329–32. Available from: http://www.ncbi.nlm.nih.gov/pubmed/12535830.

  63. MacKenzie JM, Rankin R. Sudden death due to atlantoaxial subluxation in marfan syndrome. Am J Forensic Med Pathol [Internet]. 2003 [cited 2014 Feb 13];24(4):369–70. Available from: http://www.ncbi.nlm.nih.gov/pubmed/14634478.

    Google Scholar 

  64. Glard Y, Launay F, Edgard-Rosa G, Collignon P, Jouve J-L, Bollini G. Scoliotic curve patterns in patients with Marfan syndrome. J Child Orthop [Internet]. 2008 [cited 2014 Feb 13];2(3):211–6. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2656803&tool=pmcentrez&rendertype=abstract.

  65. Di Silvestre M, Greggi T, Giacomini S, Cioni A, Bakaloudis G, Lolli F, et al. Surgical treatment for scoliosis in Marfan syndrome. Spine (Phila Pa 1976) [Internet]. 2005 [cited 2014 Feb 13];30(20):E597–604. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16227876.

  66. Demetracopoulos CA, Sponseller PD. Spinal deformities in Marfan syndrome. Orthop Clin North Am [Internet]. 2007 [cited 2014 Feb 13];38(4):563–72, vii. Available from: http://www.ncbi.nlm.nih.gov/pubmed/17945136.

  67. Shirley ED, Sponseller PD. Marfan syndrome. J Am Acad Orthop Surg [Internet]. 2009 [cited 2014 Feb 13];17(9):572–81. Available from: http://www.ncbi.nlm.nih.gov/pubmed/19726741.

  68. Collod-Béroud G, Boileau C. Marfan syndrome in the third Millennium. Eur J Hum Genet [Internet]. 2002 [cited 2014 Feb 7];10(11):673–81. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2695985&tool=pmcentrez&rendertype=abstract.

  69. Maski KP, Sengupta S, Silvera M, Rivkin MJ. Intracranial artery dissection in an adolescent with Marfan syndrome. Pediatr Neurol [Internet]. 2011 [cited 2014 Feb 13];45(1):39–41. Available from: http://www.ncbi.nlm.nih.gov/pubmed/21723458.

    Google Scholar 

  70. Kondo M, Itoh S, Nagano K, Namba M, Imai T, Onishi S. A 10-year-old boy with Marfan syndrome exhibiting cerebrovascular abnormalities. Brain Dev [Internet]. 2001 [cited 2014 Feb 13];23(4):251–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11377006.

    Google Scholar 

  71. Nagatani T, Inao S, Yoshida J. Hemifacial spasm associated with Marfan’s syndrome: a case report. Neurosurg Rev [Internet]. 1998 [cited 2014 Feb 13];21(2–3):152–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9795950.

    Google Scholar 

  72. Hainsworth PJ, Mendelow AD. Giant intracranial aneurysm associated with Marfan’s syndrome: a case report. J Neurol Neurosurg Psychiatry [Internet]. 1991 [cited 2014 Feb 13];54(5):471–2. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=488560&tool=pmcentrez&rendertype=abstract.

  73. Braca J, Hornyak M, Murali R. Hemifacial spasm in a patient with Marfan syndrome and Chiari I malformation. Case report. J Neurosurg [Internet]. 2005 [cited 2014 Feb 13];103(3):552–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16235689.

    Google Scholar 

  74. Sakakura K, Akutsu H, Yamamoto T, Masuda Y, Ishikawa E, Matsumura A. Trigeminal neuralgia in a patient with Marfan syndrome: case report. Neurol Med Chir (Tokyo) [Internet]. 2013 [cited 2014 Feb 11];1–5. Available from: http://jlc.jst.go.jp/DN/JST.JSTAGE/nmc/cr.2013-0072?lang=en&from=CrossRef&type=abstract.

  75. Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of marfan syndrome: a retrospective, hospital-based study. Stroke [Internet]. 2002 [cited 2014 Feb 13];33(3):680–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/11872887.

  76. Youl BD, Coutellier A, Dubois B, Leger JM, Bousser MG. Three cases of spontaneous extracranial vertebral artery dissection. Stroke [Internet]. 1990 [cited 2014 Feb 13];21(4):618–25. Available from: http://www.ncbi.nlm.nih.gov/pubmed/2326844.

  77. Schievink WI, Björnsson J, Piepgras DG. Coexistence of fibromuscular dysplasia and cystic medial necrosis in a patient with Marfan’s syndrome and bilateral carotid artery dissections. Stroke [Internet]. 1994 [cited 2014 Feb 13];25(12):2492–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/7974595.

    Google Scholar 

  78. Schievink WI, Parisi JE, Piepgras DG, Michels VV. Intracranial aneurysms in Marfan’s syndrome: an autopsy study. Neurosurgery [Internet]. 1997 [cited 2014 Feb 13];41(4):866–70; discussion 871. Available from: http://www.ncbi.nlm.nih.gov/pubmed/9316048.

  79. Monagle P, Chalmers E, Chan A, DeVeber G, Kirkham F, Massicotte P, et al. Antithrombotic therapy in neonates and children: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th ed). Chest [Internet]. 2008 [cited 2014 Jan 21];133(6 Suppl):887S–968S. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18574281.

  80. Roach ES, Golomb MR, Adams R, Biller J, Daniels S, Deveber G, et al. Management of stroke in infants and children: a scientific statement from a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young. Stroke [Internet]. 2008 [cited 2014 Jan 23];39(9):2644–91. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18635845.

  81. Finney LH, Roberts TS, Anderson RE. Giant intracranial aneurysm associated with Marfan’s syndrome. Case report. J Neurosurg [Internet]. 1976 [cited 2014 Feb 13];45(3):342–7. Available from: http://www.ncbi.nlm.nih.gov/pubmed/948022.

  82. Conway JE, Hutchins GM, Tamargo RJ. Marfan syndrome is not associated with intracranial aneurysms. Stroke [Internet]. 1999 [cited 2014 Feb 11];30(8):1632–6. Available from: http://stroke.ahajournals.org/cgi/doi/10.1161/01.STR.30.8.1632.

  83. Van den Berg JS, Limburg M, Hennekam RC. Is Marfan syndrome associated with symptomatic intracranial aneurysms? Stroke [Internet]. 1996 [cited 2014 Feb 13];27(1):10–2. Available from: http://www.ncbi.nlm.nih.gov/pubmed/8553383.

  84. Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC. Angiotensin II blockade and aortic-root dilation in Marfan’s syndrome. N Engl J Med [Internet]. 2008 [cited 2014 Jan 31];358(26):2787–95. Available from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2692965&tool=pmcentrez&rendertype=abstract.

  85. Wityk RJ, Zanferrari C, Oppenheimer S. Neurovascular complications of Marfan syndrome: a retrospective, hospital-based study. Stroke [Internet]. 2002 [cited 2014 Feb 13];33(3):680–4. Available from: http://stroke.ahajournals.org/cgi/doi/10.1161/hs0302.103816.

    Google Scholar 

  86. Vandersteen AM, Kenny J, Khan NL, Male A. Marfan syndrome presenting with headache and coincidental ophthalmic artery aneurysm. BMJ Case Rep [Internet]. 2013 [cited 2014 Feb 11];2013:2012–3. Available from: http://www.ncbi.nlm.nih.gov/pubmed/23505274.

  87. Bauss O, Sadat-Khonsari R, Fenske C, Engelke W, Schwestka-Polly R. Temporomandibular joint dysfunction in Marfan syndrome. Oral Surg Oral Med Oral Pathol Oral Radiol Endod [Internet]. 2004 [cited 2014 Feb 13];97(5):592–8. Available from: http://www.ncbi.nlm.nih.gov/pubmed/15153871.

  88. Koppen H, Vis JC, Gooiker DJ, Knudsen S, Bouma BJ, Tijssen JG, et al. Aortic root pathology in Marfan syndrome increases the risk of migraine with aura. Cephalalgia [Internet]. 2012 [cited 2014 Feb 15];32(6):467–72. Available from: http://www.ncbi.nlm.nih.gov/pubmed/22492422.

  89. Vis JC, Timmermans J, Post MC, Budts W, Schepens MA, Thijs V, et al. Increased prevalence of migraine in Marfan syndrome. Int J Cardiol [Internet]. 2009 [cited 2014 Feb 15];136(3):330–4. Available from: http://www.ncbi.nlm.nih.gov/pubmed/18678417.

    Google Scholar 

  90. Knudsen S, Russell MB. Increased risk of migraine in Marfan’s syndrome? Acta Neurol Scand [Internet]. 2006 [cited 2014 Feb 15];114(4):281–6. Available from: http://www.ncbi.nlm.nih.gov/pubmed/16942549.

  91. Chun JY, Dillon WP, Berger MS. Case report symptomatic enlarged cervical anterior epidural venous plexus in a patient with Marfan syndrome. AJNR Am J Neuroradiol. 2002;23(2):622–4.

    PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Academic Neurosurgery Unit, St George’s University of London, Room 1.122 Jenner Wing, London, SW17 0RE, UK

    Timothy L. Jones PhD, FRCS(SN) & Marios C. Papadopoulos MD, FRCS(SN)

Authors
  1. Timothy L. Jones PhD, FRCS(SN)
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Marios C. Papadopoulos MD, FRCS(SN)
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Timothy L. Jones PhD, FRCS(SN) .

Editor information

Editors and Affiliations

  1. Cardiovascular & Cell Sciences Research, St George's, University of London, London, United Kingdom

    Anne H. Child

Rights and permissions

Reprints and permissions

Copyright information

© 2016 Springer-Verlag London

About this chapter

Cite this chapter

Jones, T.L., Papadopoulos, M.C. (2016). The Neurosurgical Manifestations of Marfan Syndrome. In: Child, A. (eds) Diagnosis and Management of Marfan Syndrome. Springer, London. https://doi.org/10.1007/978-1-4471-5442-6_19

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-5442-6_19

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-5441-9

  • Online ISBN: 978-1-4471-5442-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation