Pediatric neurology · 2013
Nocturnal headaches and pulsatile cranial mass: the tip of an iceberg.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Smith Ashlee R, Carpenter Jeff, Pergami Paola
Аннотация
BACKGROUND: Capillary malformation-arteriovenous malformation (CM-AVM) disorder is a newly defined hereditary disorder of the vasculature with typical defining features that include cutaneous capillary malformations associated with high-flow lesions in various other organ systems. Mutations on the RASA1 gene are reported to be associated with a variety of vascular malformations and present with a widely varying phenotype.
PATIENT: A healthy 3 year old presented with acute onset of severe nocturnal headaches, nausea, and vomiting associated with a 2-cm pulsatile mass and prominent superficial veins on her forehead. Neuroimaging demonstrated a complex vascular malformation with multiple arteriovenous fistulae and cavernous angiomas present in multiple locations in the brain, but not in any other organ system.
RESULTS: The patient was found to have a mutation of the RASA1 gene, which has not been previously described in the literature.
CONCLUSIONS: This case describes a new RASA1 mutation with a phenotype that has not been previously described with a combination of pial fistulae and intracranial AV fistula in the absence of arteriovenous malformations.
PATIENT: A healthy 3 year old presented with acute onset of severe nocturnal headaches, nausea, and vomiting associated with a 2-cm pulsatile mass and prominent superficial veins on her forehead. Neuroimaging demonstrated a complex vascular malformation with multiple arteriovenous fistulae and cavernous angiomas present in multiple locations in the brain, but not in any other organ system.
RESULTS: The patient was found to have a mutation of the RASA1 gene, which has not been previously described in the literature.
CONCLUSIONS: This case describes a new RASA1 mutation with a phenotype that has not been previously described with a combination of pial fistulae and intracranial AV fistula in the absence of arteriovenous malformations.