Skip to main content

Advertisement

SpringerLink
Log in

Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

  • Case Report
  • Published:
Acta Neurochirurgica Aims and scope Submit manuscript

Abstract

This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated with transarterial coil embolization. Five years later, the patient developed recurrent contralateral CCF that required complex endovascular techniques. Genetic testing identified a novel mutation in the COL3A1 gene, confirming the diagnosis of vEDS. This case report provides a near-term perspective on the identification of structural abnormalities in the COL3A1 protein to ensure the safety of endovascular therapy for patients with vEDS.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3

Similar content being viewed by others

Data availability

Data are not publicly available, but can be requested.

Code availability

Not applicable.

Abbreviations

EDS:

Ehlers-Danlos syndrome

CCFs:

Carotid-cavernous sinus fistulas

MRA:

Magnetic resonance angiography

References

  1. Adham S, Trystram D, Albuisson J, Domigo V, Legrand A, Jeunemaitre X, Frank M (2018) Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review. Orphanet J Rare Dis 13:100. https://doi.org/10.1186/s13023-018-0842-2

    Article  PubMed  PubMed Central  Google Scholar 

  2. Byers PH (1993) Vascular Ehlers-Danlos Syndrome. In: Adam MP, Mirzaa GM, Pagon RA et al (eds) GeneReviews(R). Seattle (WA). https://www.ncbi.nlm.nih.gov/books/NBK1494/pdf/Bookshelf_NBK1494.pdf. Accessed 14 Sept 2023

  3. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N (2017) Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet 175:40–47. https://doi.org/10.1002/ajmg.c.31553

    Article  PubMed  Google Scholar 

  4. Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarie N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X (2015) The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. Eur J Hum Genet 23:1657–1664. https://doi.org/10.1038/ejhg.2015.32

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  5. Kuivaniemi H, Tromp G (2019) Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases. Gene 707:151–171. https://doi.org/10.1016/j.gene.2019.05.003

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  6. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B (2017) The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet 175:8–26. https://doi.org/10.1002/ajmg.c.31552

    Article  PubMed  Google Scholar 

  7. Olubajo F, Kaliaperumal C, Choudhari KA (2020) Vascular Ehlers-Danlos Syndrome: Literature review and surgical management of intracranial vascular complications. Clin Neurol Neurosurg 193:105775. https://doi.org/10.1016/j.clineuro.2020.105775

    Article  PubMed  Google Scholar 

  8. Padmanaban V, Yee PP, Koduri S, Zaidat B, Daou BJ, Chaudhary N, Gemmete JJ, Thompson BG, Kazmierczak CD, Cockroft KM, Pandey AS, Wilkinson DA (2023) Neuroendovascular procedures in patients with Ehlers-Danlos type IV: Multicenter case series and systematic review. World Neurosurg 170:e529–e541. https://doi.org/10.1016/j.wneu.2022.11.067

    Article  PubMed  Google Scholar 

  9. Pepin M, Schwarze U, Superti-Furga A, Byers PH (2000) Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med 342:673–680. https://doi.org/10.1056/NEJM200003093421001

    Article  CAS  PubMed  Google Scholar 

  10. Schievink WI, Piepgras DG, Ft E, Gordon H (1991) Spontaneous carotid-cavernous fistulae in Ehlers-Danlos syndrome Type IV. Case report J Neurosurg 74:991–998. https://doi.org/10.3171/jns.1991.74.6.0991

    Article  CAS  PubMed  Google Scholar 

  11. Stamatopoulos T, Anagnostou E, Plakas S, Papachristou K, Lagos P, Samelis A, Derakhshani S, Mitsos A (2022) Treatment of carotid cavernous sinus fistulas with flow diverters. A case report and systematic review. Interv Neuroradiol 28:70–83. https://doi.org/10.1177/15910199211014701

    Article  PubMed  Google Scholar 

  12. Tunyasuvunakool K, Adler J, Wu Z, Green T, Zielinski M, Zidek A, Bridgland A, Cowie A, Meyer C, Laydon A, Velankar S, Kleywegt GJ, Bateman A, Evans R, Pritzel A, Figurnov M, Ronneberger O, Bates R, Kohl SAA, Potapenko A, Ballard AJ, Romera-Paredes B, Nikolov S, Jain R, Clancy E, Reiman D, Petersen S, Senior AW, Kavukcuoglu K, Birney E, Kohli P, Jumper J, Hassabis D (2021) Highly accurate protein structure prediction for the human proteome. Nature 596:590–596. https://doi.org/10.1038/s41586-021-03828-1

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  13. Uchiyama N, Kawahara Y, Uchida W, Nitta A, Nohara A, Hayashi Y (2023) Percutaneous transjugular approach without arterial monitoring for the treatment of a direct carotid-cavernous fistula with vascular Ehlers-Danlos syndrome: illustrative case. J Neurosurg Case Lessons 6. https://doi.org/10.3171/CASE23188

Download references

Funding

We did not receive any funding for this research.

Author information

Authors and Affiliations

  1. Department of Neurosurgery, Hyogo Medical University, 1-1 Mukogawacho, Nishinomiya, Hyogo, 663-8501, Japan

    Kotaro Tatebayashi, Manabu Shirakawa & Shinichi Yoshimura

  2. Department of Neurology, National Cerebral and Cardiovascular Center, Osaka, Japan

    Soichiro Abe

  3. Center for Medical Education and Clinical Training, Kindai University Faculty of Medicine, Osaka, Japan

    Mitsugu Fujita

Authors
  1. Kotaro Tatebayashi
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Manabu Shirakawa
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Soichiro Abe
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mitsugu Fujita
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Shinichi Yoshimura
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

K.T. and M.F. contributed to the study conception and design. Material preparation, data collection and analysis were performed by K.T. The first draft of the manuscript was written by K.T. and all authors commented on previous versions of the manuscript. K.T., M.S. and S.A. provided medical care to the patient. Both approved the final report. All authors have read and agreed to the published version of the manuscript.

Corresponding author

Correspondence to Shinichi Yoshimura.

Ethics declarations

Ethics approval

No ethics approval was required for this retrospective case report.

Consent to participate

The patient gave consent to be included in the study.

Consent for publication

The patient has given written consent for this report to be published.

Conflicts of interest/Competing interests

No conflicts of interest to report.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Tatebayashi, K., Shirakawa, M., Abe, S. et al. Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report. Acta Neurochir 165, 3799–3804 (2023). https://doi.org/10.1007/s00701-023-05859-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00701-023-05859-1

Keywords

Search

Navigation