Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2015
A spectrum of intracranial vascular high-flow arteriovenous shunts in RASA1 mutations.
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.
Grillner Pernilla, Söderman Micheal, Holmin Staffan, Rodesch Georges
Аннотация
PURPOSE AND BACKGROUND: We describe three paediatric cases with different intracranial fast-flow shunts presenting early in life, all with capillary malformation-arteriovenous malformation syndrome and RASA1 verified mutations. Intracranial arteriovenous fast-flow shunts are rare vascular malformations typically presenting early in life and have been associated with cutaneous capillary malformations, characterized as capillary malformation-arteriovenous malformation syndrome. Heterozygous RASA1 gene mutations have been found to be disease causing with high penetrance for the typical cutaneous findings, but only some individuals with the syndrome have intracranial lesions.
CASES: One infant presented with a vein of Galen malformation responsible for hydrodynamic disorders, one neonate suffered from severe cardiac insufficiency related to a superior sagittal sinus dural malformation with high-flow fistulas, and one baby was treated at infant age of a choroidal arteriovenous fistula discovered antenatally.
RESULTS AND CONCLUSIONS: We report the follow-up of these three cases with RASA1 gene mutation and comment on the possible role of evaluation for vascular lesions and capillary malformation-arteriovenous malformation syndrome in patients and their families, with intracranial fast-flow shunts.
CASES: One infant presented with a vein of Galen malformation responsible for hydrodynamic disorders, one neonate suffered from severe cardiac insufficiency related to a superior sagittal sinus dural malformation with high-flow fistulas, and one baby was treated at infant age of a choroidal arteriovenous fistula discovered antenatally.
RESULTS AND CONCLUSIONS: We report the follow-up of these three cases with RASA1 gene mutation and comment on the possible role of evaluation for vascular lesions and capillary malformation-arteriovenous malformation syndrome in patients and their families, with intracranial fast-flow shunts.