World neurosurgery · 2020
Intracranial Vessel Stenosis in a Young Patient with an MYH11 Mutation: A Case Report and Review of 2 Prior Cases.
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.
Larson Anthony, Rinaldo Lorenzo, Brinjikji Waleed, Klaas James, Lanzino Giuseppe
Аннотация
BACKGROUND: The MYH11 gene codes for smooth muscle myosin heavy chain, which has a critical function in maintaining vascular wall stability. Patients with this mutation most commonly have aortic and cardiac defects. Documented involvement of intracranial vessels is exceptional.
CASE DESCRIPTION: A 29-year-old woman with a history of patent ductus arteriosus and aortic dissection was found to have incidental bilateral stenosis of the terminal internal carotid arteries as well as the proximal anterior cerebral arteries, middle cerebral arteries, and posterior cerebral arteries on magnetic resonance angiography that was obtained for unrelated symptoms. There was no evidence of basal collateral formation, and a generalized straightening of the vessels was observed. These angiographic findings have been typically observed in patients with ACTA2 mutations. Thus, genetic testing was pursued, which uncovered the presence of an MYH11 mutation. Follow-up imaging at 51 months demonstrated that the intracranial stenosis remained stable without evidence of basal collateral formation. She did not experience any neurologic events during the follow-up interval.
CONCLUSIONS: Intracranial vessel involvement in patients with MYH11 mutations is rare. Vigilant cerebrovascular monitoring should be practiced in this population to guide appropriate management. Reporting of similar cases is important to improve understanding of the development of idiopathic intracranial stenosis in young individuals.
CASE DESCRIPTION: A 29-year-old woman with a history of patent ductus arteriosus and aortic dissection was found to have incidental bilateral stenosis of the terminal internal carotid arteries as well as the proximal anterior cerebral arteries, middle cerebral arteries, and posterior cerebral arteries on magnetic resonance angiography that was obtained for unrelated symptoms. There was no evidence of basal collateral formation, and a generalized straightening of the vessels was observed. These angiographic findings have been typically observed in patients with ACTA2 mutations. Thus, genetic testing was pursued, which uncovered the presence of an MYH11 mutation. Follow-up imaging at 51 months demonstrated that the intracranial stenosis remained stable without evidence of basal collateral formation. She did not experience any neurologic events during the follow-up interval.
CONCLUSIONS: Intracranial vessel involvement in patients with MYH11 mutations is rare. Vigilant cerebrovascular monitoring should be practiced in this population to guide appropriate management. Reporting of similar cases is important to improve understanding of the development of idiopathic intracranial stenosis in young individuals.