Skip to main content

Advertisement

SpringerLink
Log in

A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband

  • Letter to the Editor
  • Published:
Neurological Sciences Aims and scope Submit manuscript

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

References

  1. Faughnan ME, Palda VA, Garcia-Tsao G, Geisthoff UW, McDonald J, Proctor DD, Spears J, Brown DH, Buscarini E, Chesnutt MS, Cottin V, Ganguly A, Gossage JR, Guttmacher AE, Hyland RH, Kennedy SJ, Korzenik J, Mager JJ, Ozanne AP, Piccirillo JF, Picus D, Plauchu H, Porteous ME, Pyeritz RE, Ross DA, Sabba C, Swanson K, Terry P, Wallace MC, Westermann CJ, White RI, Young LH, Zarrabeitia R, HHT Foundation International - Guidelines Working Group (2011) International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J Med Genet 48:73–87

    Article  CAS  Google Scholar 

  2. Karlsson T, Cherif H (2018) Mutations in the ENG, ACVRL1, and SMAD4 genes and clinical manifestations of hereditary haemorrhagic telangiectasia: experience from the Center for Osler's Disease, Uppsala University Hospital. Ups J Med Sci 123:153–157

    Article  Google Scholar 

  3. Shovlin CL, Guttmacher AE, Buscarini E, Faughnan ME, Hyland RH, Westermann CJJ, Kjeldsen AD, Plauchu H (2000) Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome). Am J Med Genet 91:66–67

    Article  CAS  Google Scholar 

  4. Mazzucco S, Benini L, Gallione C, D’Adamo P, Girelli D (2014) Juvenile stroke in combined syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis. Neurol Sci 35:1315–1318

    Article  Google Scholar 

  5. Torring PM, Lauridsen MF, Dali CI et al (2017) Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia. Clin Case Rep 5:805–808

    Article  Google Scholar 

  6. Du J, Zhu Y, Zhang YL et al (2015) Heart failure and pulmonary arteriovenous malformations in a patient with hereditary hemorrhagic telangiectasia type 2. J Thromb Thrombolysis 40:515–519

    Article  Google Scholar 

  7. Canzonieri C, Centenara L, Ornati F, Pagella F, Matti E, Alvisi C, Danesino C, Perego M, Olivieri C (2014) Endoscopic evaluation of gastrointestinal tract in patients with hereditary hemorrhagic telangiectasia and correlation with their genotypes. Genet Med 16:3–10

    Article  CAS  Google Scholar 

Download references

Funding

This research was supported by grants from the Shandong province key research and development plan (2018GSF121009) and Natural science foundation of Shandong province (ZR2019BH074).

Author information

Authors and Affiliations

  1. Department of Neurology, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, People’s Republic of China

    Xiaojuan Han & Yifeng Du

  2. Department of Neurology, Shandong Provincial Hospital, Cheeloo College of Medicine, Shandong University, No 324, Jingwu Road, 250012, Jinan, Shandong, People’s Republic of China

    Xiaojuan Han, Yifeng Du & Shen Qi

  3. Department of Neurology, Mengyin County People’s Hospital, Mengyin, China

    Tingming Xie & Zenggang Yang

  4. Department of Neurology, Shandong Zaozhuang Municipal Hospital, Jinan, People’s Republic of China

    Shen Qi

Authors
  1. Xiaojuan Han
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tingming Xie
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Zenggang Yang
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Yifeng Du
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Shen Qi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Shen Qi.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Informed consent

Informed consent was obtained from the patient.

Ethical approval

None.

Additional information

Publisher’s note

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

Electronic supplementary material

ESM 1

(DOCX 1238 kb).

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Han, X., Xie, T., Yang, Z. et al. A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband. Neurol Sci 41, 3365–3368 (2020). https://doi.org/10.1007/s10072-020-04500-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10072-020-04500-8

Search

Navigation