Cerebrovascular Malformations in a Pediatric Hereditary Hemorrhagic Telangiectasia Cohort
| Autor: | Daniel J. Licht, Elizabeth Goldmuntz, Samantha Fallacaro, Arastoo Vossough, Jake Breimann, Lauren A. Beslow, Reed E. Pyeritz, Jake Waldman |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Intracranial Arteriovenous Malformations
Male Pediatrics medicine.medical_specialty Arteriovenous fistula 03 medical and health sciences 0302 clinical medicine Developmental Neuroscience Interquartile range 030225 pediatrics Humans Medicine Child Telangiectasia Stroke Cerebral Hemorrhage Ischemic Stroke Retrospective Studies Intracerebral hemorrhage Tertiary Healthcare business.industry Infant Retrospective cohort study Arteriovenous malformation medicine.disease Neurology Child Preschool Arteriovenous Fistula Pediatrics Perinatology and Child Health Cohort Female Telangiectasia Hereditary Hemorrhagic Neurology (clinical) medicine.symptom business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric Neurology. 110:49-54 |
| ISSN: | 0887-8994 |
| Popis: | Background We determined the frequency of cerebrovascular malformations in a pediatric cohort with hereditary hemorrhagic telangiectasia. Methods Retrospective cohort study of 54 children diagnosed with hereditary hemorrhagic telangiectasia at a tertiary care center. All neuroimaging was reviewed to assess for number and types of cerebrovascular malformations and for intracerebral hemorrhage and arterial ischemic stroke. Clinical charts were reviewed for clinical manifestations, genetic mutation, and clinically evident intracerebral hemorrhages and arterial ischemic strokes. Results Among 54 children with hereditary hemorrhagic telangiectasia with a median age of 3.5 years (interquartile range 0.4 to 7.9 years) at diagnosis, neuroimaging was performed in 52 (96.3%) at a median age of 5.2 years (interquartile range 1.8 to 9 years). Fourteen of 52 imaged children (26.9%) had cerebrovascular malformations. Cerebrovascular malformations included arteriovenous malformations, arteriovenous fistulas, vein of Galen malformations, and developmental venous anomalies. Six of the 14 children with cerebrovascular malformations (42.9%) had multiple malformations. Three children developed new cerebral arteriovenous malformations over time. Six children (11.1%) had clinically evident intracerebral hemorrhage, arterial ischemic stroke, or transient ischemic attack. The three children with intracerebral hemorrhage presented at young ages (4.3 to 7.7 years). Conclusions More than a quarter of children with hereditary hemorrhagic telangiectasia who were imaged had cerebrovascular malformations, and overt stroke occurred in more than 10%. Intracerebral hemorrhages can occur in pediatric hereditary hemorrhagic telangiectasia patients at young ages, and new cerebral arteriovenous malformations may develop over time. Early screening with neuroimaging including neurovascular imaging as well as repeat neuroimaging may be warranted in children with hereditary hemorrhagic telangiectasia. |
| Databáze: | OpenAIRE |
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