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Neurological Sciences

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01-11-2020 | Computed Tomography | 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

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

Published in: Neurological Sciences | Issue 11/2020

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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

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

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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

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

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

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

Title: A case report of hereditary hemorrhagic telangiectasia in a family with initial presentation of cerebral abscess and pulmonary arteriovenous malformation in the proband
Authors: Xiaojuan Han
Tingming Xie
Zenggang Yang
Yifeng Du
Shen Qi
Publication date: 01-11-2020
Publisher: Springer International Publishing
Keywords: Computed Tomography
Computed Tomography
Edema
CT Angiography
Epistaxis
Arteriovenous Malformation
Hereditary Hemorrhagic Telangiectasia
Published in: Neurological Sciences / Issue 11/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04500-8

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

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