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Erschienen in: Neurological Sciences 11/2020

08.06.2020 | Letter to the Editor

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

verfasst von: Xiaojuan Han, Tingming Xie, Zenggang Yang, Yifeng Du, Shen Qi

Erschienen in: Neurological Sciences | Ausgabe 11/2020

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Literatur
1.
Zurück zum Zitat 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 48:73–87CrossRef 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 48:73–87CrossRef
2.
Zurück zum Zitat 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 123:153–157CrossRef 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 123:153–157CrossRef
3.
Zurück zum Zitat 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 91:66–67CrossRef 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 91:66–67CrossRef
4.
Zurück zum Zitat 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 35:1315–1318CrossRef 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 35:1315–1318CrossRef
5.
Zurück zum Zitat Torring PM, Lauridsen MF, Dali CI et al (2017) Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia. Clin Case Rep 5:805–808CrossRef Torring PM, Lauridsen MF, Dali CI et al (2017) Familial cerebral abscesses caused by hereditary hemorrhagic telangiectasia. Clin Case Rep 5:805–808CrossRef
6.
Zurück zum Zitat 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 40:515–519CrossRef 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 40:515–519CrossRef
7.
Zurück zum Zitat 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 16:3–10CrossRef 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 16:3–10CrossRef
Metadaten
Titel
A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband
verfasst von
Xiaojuan Han
Tingming Xie
Zenggang Yang
Yifeng Du
Shen Qi
Publikationsdatum
08.06.2020
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 11/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-020-04500-8

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