Clinical Neuroscience

[Multiple ischemic stroke in Osler-Rendu-Weber disease]

SALAMON András1, FARAGÓ Péter1, NÉMETH Viola Luca1, SZÉPFALUSI Noémi1, HORVÁTH Emese2, VASS Andrea3, BERECZKY Zsuzsanna4, TAJTI János1, VÉCSEI László1,5, KLIVÉNYI Péter1, ZÁDORI Dénes1

JANUARY 30, 2019

Clinical Neuroscience - 2019;72(01-02)

DOI: https://doi.org/10.18071/isz.72.0065

[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.]

AFFILIATIONS

  1. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Neurológiai Klinika, Szeged
  2. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Orvosi Genetikai Intézet, Szeged
  3. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, II. Sz. Belgyógyászati Klinika és Kardiológiai Központ, Szeged
  4. Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Laboratóriumi Kutató Tanszék, Debrecen
  5. MTA-SZTE Idegtudományi Kutatócsoport, Szeged

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