Multiplex ischaemiás stroke osler-rendu-weber-kórban

Translated title of the contribution: Multiple ischemic stroke in osler-rendu-weber disease

András Salamon, Péter Faragó, Viola Luca Németh, Noémi Szépfalusi, Emese Horváth, Andrea Vass, Z. Bereczky, J. Tajti, L. Vécsei, P. Klivényi, Dénes Zádori

Research output: Contribution to journalArticle

Abstract

Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curagao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.

Original languageHungarian
Pages (from-to)65-70
Number of pages6
JournalIdeggyogyaszati szemle
Volume72
Issue number1-2
DOIs
Publication statusPublished - Jan 30 2019

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Hereditary Hemorrhagic Telangiectasia
Arteriovenous Malformations
Epistaxis
Stroke
Lung
Mutation
Thymine
Gene Order
Unconsciousness
Terminator Codon
Executive Function
Frontal Lobe
Deglutition
Lip
Nose
Fingers
Mouth
Electroencephalography
Exons
Patient Care

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Salamon, A., Faragó, P., Németh, V. L., Szépfalusi, N., Horváth, E., Vass, A., ... Zádori, D. (2019). Multiplex ischaemiás stroke osler-rendu-weber-kórban. Ideggyogyaszati szemle, 72(1-2), 65-70. https://doi.org/10.18071/isz.72.0065

Multiplex ischaemiás stroke osler-rendu-weber-kórban. / Salamon, András; Faragó, Péter; Németh, Viola Luca; Szépfalusi, Noémi; Horváth, Emese; Vass, Andrea; Bereczky, Z.; Tajti, J.; Vécsei, L.; Klivényi, P.; Zádori, Dénes.

In: Ideggyogyaszati szemle, Vol. 72, No. 1-2, 30.01.2019, p. 65-70.

Research output: Contribution to journalArticle

Salamon, A, Faragó, P, Németh, VL, Szépfalusi, N, Horváth, E, Vass, A, Bereczky, Z, Tajti, J, Vécsei, L, Klivényi, P & Zádori, D 2019, 'Multiplex ischaemiás stroke osler-rendu-weber-kórban', Ideggyogyaszati szemle, vol. 72, no. 1-2, pp. 65-70. https://doi.org/10.18071/isz.72.0065
Salamon A, Faragó P, Németh VL, Szépfalusi N, Horváth E, Vass A et al. Multiplex ischaemiás stroke osler-rendu-weber-kórban. Ideggyogyaszati szemle. 2019 Jan 30;72(1-2):65-70. https://doi.org/10.18071/isz.72.0065
Salamon, András ; Faragó, Péter ; Németh, Viola Luca ; Szépfalusi, Noémi ; Horváth, Emese ; Vass, Andrea ; Bereczky, Z. ; Tajti, J. ; Vécsei, L. ; Klivényi, P. ; Zádori, Dénes. / Multiplex ischaemiás stroke osler-rendu-weber-kórban. In: Ideggyogyaszati szemle. 2019 ; Vol. 72, No. 1-2. pp. 65-70.
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