Screening for Sturge-Weber syndrome: A state-of-the-art review
| Autor: | John C Su, Mark T Mackay, Michael Ditchfield, Richard J. Leventer, Michaela Zallmann, Philip S Bekhor |
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| Rok vydání: | 2017 |
| Předmět: |
Pediatrics
medicine.medical_specialty Sturge–Weber syndrome Port-Wine Stain MEDLINE Neuroimaging Dermatology Electroencephalography law.invention 030207 dermatology & venereal diseases 03 medical and health sciences Epilepsy 0302 clinical medicine Randomized controlled trial law Seizures Sturge-Weber Syndrome medicine Humans Mass Screening Psychiatry Mass screening medicine.diagnostic_test business.industry Brain Infant Magnetic resonance imaging medicine.disease Magnetic Resonance Imaging Pediatrics Perinatology and Child Health business 030217 neurology & neurosurgery |
| Zdroj: | Pediatric dermatology. 35(1) |
| ISSN: | 1525-1470 |
| Popis: | Infants with a high-risk distribution of port-wine stains are commonly screened for Sturge-Weber syndrome using brain magnetic resonance imaging. There is no consensus about which port-wine stain phenotypes to screen, optimal timing, screening sensitivity, or whether presymptomatic diagnosis improves neurodevelopmental outcomes. This state-of-the-art review examines the evidence in favor of screening for Sturge-Weber syndrome, based on its effect on neurodevelopmental outcomes, against the risks and limitations of screening magnetic resonance imaging and electroencephalography. A literature search of PubMed/MEDLINE was conducted between January 2005 and May 2017 using key search terms. Relevant articles published in English were reviewed; 34 articles meeting the search criteria were analyzed according to the following outcome measures: neurodevelopmental outcome benefit of screening, diagnostic yield, financial costs, procedural risks, and limitations of screening magnetic resonance imaging and electroencephalography. There is no evidence that a presymptomatic Sturge-Weber syndrome diagnosis with magnetic resonance imaging results in better neurodevelopmental outcomes. The utility of electroencephalographic screening is also unestablished. In Sturge-Weber syndrome, neurodevelopmental outcomes depend on prompt recognition of neurologic red flags and early seizure control. Small numbers and a lack of prospective randomized controlled trials limit these findings. For infants with port-wine stain involving skin derived from the frontonasal placode (forehead and hemifacial phenotypes), we recommend early referral to a pediatric neurologist for parental education, counselling, and monitoring for neurologic red flags and seizures and consideration of electroencephalography regardless of whether magnetic resonance imaging is performed or its findings. |
| Databáze: | OpenAIRE |
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