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Optimized Management of Endovascular Treatment for Acute Ischemic Stroke
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[Multiple ischemic stroke in Osler-Rendu-Weber disease].

András Salamon1, Péter Faragó1, Viola Luca Németh1

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PubMed
Summary

This study details the first genetically confirmed Hungarian case of Hereditary Hemorrhagic Telangiectasia (HHT) with multiple ischemic strokes. The findings highlight the genetic basis and clinical manifestations of HHT, emphasizing multidisciplinary care.

Keywords:
Osler-Rendu-Weber diseasearteriovenous malformationhereditary hemorrhagic teleangiectasia

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Area of Science:

  • Genetics
  • Neurology
  • Vascular Malformations

Background:

  • Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder affecting the arteriovenous system.
  • Diagnosis relies on Curaçao criteria, including epistaxis, telangiectasias, visceral lesions, and family history.

Observation:

  • A 70-year-old Hungarian woman presented with a history of epistaxis, GI bleeding, and skin lesions.
  • Clinical presentation included loss of consciousness, speech/swallowing difficulties, and neurological deficits.
  • Brain MRI revealed arteriovenous malformations and multiple ischemic lesions; lung AVM also identified.

Findings:

  • Genetic analysis confirmed a heterozygous mutation in the ENG gene (c.834dupT) causing HHT.
  • The patient exhibited multiple cerebral and pulmonary arteriovenous malformations.
  • Neurological and neuropsychological assessments indicated deficits consistent with stroke and HHT complications.

Implications:

  • This case underscores the importance of genetic confirmation in HHT diagnosis.
  • Highlights the link between HHT, arteriovenous malformations, and ischemic stroke.
  • Emphasizes the necessity of a multidisciplinary approach for comprehensive HHT patient management.