ArticleAJNR. American journal of neuroradiology2017
The Prevalence of Malformations of Cortical Development in a Pediatric Hereditary Hemorrhagic Telangiectasia Population.
Article in AJNR. American journal of neuroradiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed, 22 citations in OpenAlex.
- Family phenotypic profile in hereditary hemorrhagic telangiectasia: genotype-phenotype correlation in a pediatric Italian population.Italian journal of pediatrics · 2025Article
- Cortical malformation adjacent to a large pial arteriovenous fistula.BMJ case reports · 2024Article
- 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
- The spectrum of brain malformations and disruptions in twins.American journal of medical genetics. Part A · 2021Article
- Systemic and CNS manifestations of inherited cerebrovascular malformations.Clinical imaging · 2021Review
- Hereditary hemorrhagic telangiectasia associated with cortical development malformation due to a start loss mutation in ENG.BMC neurology · 2020Article
- Cerebral Corticoarterial Malformations : A Case Series of Unilateral Polymicrogyria and Ipsilateral Arterial Dysplasia.Clinical neuroradiology · 2020Article
- Current Status of Clinical Diagnosis and Genetic Analysis of Hereditary Hemorrhagic Telangiectasia in South Korea: Multicenter Case Series and a Systematic Review.Neurointervention · 2019Article
- Follow-up of percutaneous transcatheter closure of pulmonary arteriovenous fistulas.Chinese medical journal · 2019Article
- Article
- A newRespiratory medicine case reports · 2018Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
background and purposeBrain AVM, cerebral abscess, and ischemic stroke are among the well known neurologic manifestations of hereditary hemorrhagic telangiectasia. However, recently reported data suggest an additional association with malformations of cortical development. The purpose of this study was to determine the prevalence of malformations of cortical development in a population of pediatric patients with hereditary hemorrhagic telangiectasia. MATERIALS AND
methodsA retrospective review of brain MRIs from 116 pediatric patients was performed. Each patient was referred from our institution's Hereditary Hemorrhagic Telangiectasia Clinic. Each MRI included a 3D sequence, most frequently MPRAGE. The 3D sequence was evaluated by a neuroradiology fellow, with specific attention to the presence or absence of malformations of cortical development. Positive studies were subsequently reviewed by 2 attending neuroradiologists, who rendered a final diagnosis.
resultsFourteen of 116 (12.1%) patients were found to have a malformation of cortical development. Among these 14, there were 12 cases of polymicrogyria and 2 cases of bifrontal periventricular nodular heterotopia.
conclusionsPediatric patients with hereditary hemorrhagic telangiectasia have a relatively high prevalence of malformations of cortical development, typically perisylvian polymicrogyria.
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