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Fusiform Aneurysm Presenting with Cervical Radiculopathy in Ehlers-Danlos Syndrome

  • Kim, Ho-Sang (Department of Neurosurgery, School of Medicine, Pusan National University) ;
  • Choi, Chang-Hwa (Department of Neurosurgery, School of Medicine, Pusan National University) ;
  • Lee, Tae-Hong (Department of Radiology, School of Medicine, Pusan National University) ;
  • Kim, Sang-Phil (Department of Thoracicsurgery, School of Medicine, Pusan National University)
  • Received : 2009.07.29
  • Accepted : 2010.12.21
  • Published : 2010.12.28

Abstract

Ehlers-Danlos syndrome (EDS) type IV is characterized by its clinical manifestations, which are easy bruising, thin skin with visible veins, and rupture of arteries, uterus, or intestines. Arterial complications are the leading cause of death in vascular EDS because they are unpredictable and surgical repair is difficult due to tissue fragility. The authors report a case presented with cervical radiculopathy due to a segmental fusiform aneurysm of the cervical vertebral artery. Transfemoral cerebral angiography (TFCA) was done to verify the aneurysmal dilatation. However, during TFCA, bleeding at the puncture site was not controlled, skin and underlying muscle was disrupted and profound bleeding occurred during manual compression after femoral catheter removal. Accordingly, surgical repair of the injured femoral artery was performed. At this time it was possible to diagnose it as an EDS with fusiform aneurysm on cervical vertebral artery. Particularly, cervical fusiform aneurysm is rare condition, and therefore, connective tissue disorder must be considered in such cases. If connective tissue disorder is suspected, the authors suggest that a noninvasive imaging modality, such as, high quality computed tomography angiography, be used to evaluate the vascular lesion to avoid potential arterial complications.

Keywords

References

  1. Beighton P : The Ehlers-Danlos syndromes. In : Beighton P, ed. McKusick's heritable disorders of connective tissue : 189-251, St. Louis : Mosby-ear Book, 1993
  2. Barr JD, Lemley TJ : Endovascular arterial occlusion accomplished using microcoils deployed with and without proximal flow arrest : Result in 19 patients. Am J Neuroradiol 20 : 1452-1456, 1999
  3. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ : Ehlers-Danlos syndromes : revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet 77 : 31-37, 1998 https://doi.org/10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O
  4. Buerger T, Lippert H, Meyer F, Halloul Z : Aneurysm of the vertebral artery near the atlas arch. J Cardiovasc Surg (Torino) 40 : 387-389, 1999
  5. Burrows N : The molecular genetics of the Ehlers-Danlos syndrome. Clin Exp Dermatol 24 : 99-106, 1999 https://doi.org/10.1046/j.1365-2230.1999.00427.x
  6. Dalgleish R : The Human Collagen Mutation Database 1998. Nucleic Acids Res 26 : 253-255, 1998 https://doi.org/10.1093/nar/26.1.253
  7. Germain DP : Clinical and genetic features of vascular Ehlers-Danlos syndrome. Ann Vasc Surg 16 : 391-397, 2002 https://doi.org/10.1007/s10016-001-0229-y
  8. Germain D : Le syndrome d''Ehlers-Danlos vasculaire. Sang Thrombose Vaisseaux 11 : 767-775, 1999
  9. Germain DP, Herrera-Guzman Y : Vascular Ehlers-Danlos syndrome. Ann Genet 47 : 1-9, 2004 https://doi.org/10.1016/j.anngen.2003.07.002
  10. Koh JH, Kim JS, Hong SC, Choe YH, Do YS, Byun HS, et al. : Skin manifestations, multiple aneurysms, and carotid-cavernous fistula in Ehlers-Danlos syndrome type IV. Circulation 100 : e57-e58, 1999 https://doi.org/10.1161/01.CIR.100.13.e57
  11. Lanzino G, Wakhloo AK, Fessler RD, Hartney ML, Guterman LR, Hopkins LN : Efficacy and current limitations of intravascular stents for intracranial internal carotid, vertebral, and basilar artery aneurysms. J Neurosurg 91 : 538-546, 1999 https://doi.org/10.3171/jns.1999.91.4.0538
  12. 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 37 : 275-281, 2005 https://doi.org/10.1038/ng1511
  13. Loeys BL, Schwarze U, Holm T, Callewaert BL, Thomas GH, Pannu H, et al. : Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med 355 : 788-798, 2006 https://doi.org/10.1056/NEJMoa055695
  14. Pepin M, Schwarze U, Superti-Furga A, Byers PH : Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342 : 673-680, 2000 https://doi.org/10.1056/NEJM200003093421001
  15. Sambrook J, Fritsch EF, Maniatis T : Molecular cloning : A laboratory manual. 2nd ed. Plainview, N.Y. : Cold Spring Harbor Laboratory Press : 1.8-1.9, 1989
  16. Sultan S, Morasch M, Colgan MP, Madhavan P, Moore D, Shanik G : Operative and endovascular management of extracranial vertebral artery aneurysm in Ehlers-Danlos syndrome : a clinical dilemma-case report and literature review. Vasc Endovascular Surg 36 : 389-392, 2002 https://doi.org/10.1177/153857440203600510

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