ArticleBMC neurology2020
Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.
Article in BMC neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Diverse Genetic Etiologies of Unilateral Polymicrogyria.Annals of neurology · 2026Article
- Hereditary Hemorrhagic Telangiectasia in Pediatric Age: Focus on Genetics and Diagnosis.Pediatric reports · 2023Review
- Schizencephaly in Hereditary Hemorrhagic Telangiectasia.AJNR. American journal of neuroradiology · 2022Article
- Arteriovenous Cerebral High Flow Shunts in Children: From Genotype to Phenotype.Frontiers in pediatrics · 2022Article
- Bioinformatics Identification of Key Genes for the Development and Prognosis of Lung Adenocarcinoma.Inquiry : a journal of medical care organization, provision and financingArticle
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is a rare disorder characterized by recurrent epistaxis, telangiectasias and systemic arteriovenous malformations (AVMs). HHT is associated with mutations in genes encoding for proteins involved in endothelial homeostasis such as ENG (endoglin) and ACVRL1 (activin receptor-like kinase-1). CASE PRESENTATION: Here we describe a 22-year-old male presenting with a transient episode of slurred speech and left arm paresis. Brain MRI displayed polymicrogyria. A right-to-left shunt in absence of an atrial septum defect was noted. Chest CT revealed multiple pulmonary AVMs, likely causing paradoxical embolism manifesting as a transient ischemic attack. The heterozygous ENG variant, c.3G > A (p.Met1lle), was detected in the patient. This variant was also found in patient's mother and in his younger brother who displayed cortical dysplasia type 2.
conclusionsThe detection of cortical development malformations in multiple subjects from the same pedigree may expand the phenotypic features of ENG-related HHT patients. We suggest considering HHT in young patients presenting with acute cerebral ischemic events of unknown origin.
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