Unique Cerebrovascular Anomalies in Noonan Syndrome With RAF1 Mutation
| Autor: | M. Gisele Matheus, L. Kate Clarkson, Angie W. Lichty, Yuri A. Zarate, Kristen J. Champion, Kenton R. Holden |
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| Rok vydání: | 2013 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty Tomography Scanners X-Ray Computed Brain vasculature External hydrocephalus medicine.disease_cause Magnetic resonance angiography Neurodevelopmental disorder Germline mutation medicine Humans Child skin and connective tissue diseases Computed tomography angiography Mutation medicine.diagnostic_test business.industry Noonan Syndrome Brain medicine.disease Magnetic Resonance Imaging Cerebrovascular Disorders Pediatrics Perinatology and Child Health Noonan syndrome raf Kinases Neurology (clinical) business |
| Zdroj: | Journal of Child Neurology. 29:NP13-NP17 |
| ISSN: | 1708-8283 0883-0738 |
| DOI: | 10.1177/0883073813492384 |
| Popis: | Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology. |
| Databáze: | OpenAIRE |
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