Multiplex ischaemiás stroke Osler-Rendu-Weber-kórban

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 Curaçao cri...

Teljes leírás

Elmentve itt :
Bibliográfiai részletek
Szerzők: Salamon András
Faragó Péter
Németh Viola Luca
Szépfalusi Noémi
Horváth Emese
Vass Andrea
Bereczky Zsuzsanna
Tajti János
Vécsei László
Klivényi Péter
Zádori Dénes
Dokumentumtípus: Cikk
Megjelent: 2019
Sorozat:IDEGGYOGYASZATI SZEMLE / CLINICAL NEUROSCIENCE 72 No. 1-2
doi:10.18071/isz.72.0065

mtmt:30635146
Online Access:http://publicatio.bibl.u-szeged.hu/15387
Leíró adatok
Tartalmi kivonat: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 Curaçao 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.
Terjedelem/Fizikai jellemzők:65-70
ISSN:0019-1442