G25 RASA1 Mutations and Vein of Galen Arterial Malformations
نویسندگان
چکیده
منابع مشابه
Vein of Galen Malformations
Arteriovenous fistulae between the embryonic vessels situated in the midline are often associated with aneurismal dilatation of the great cerebral vein. These fistulae occur in the telencephalic, diencephalic, and mesencephalic segments of the primitive brain. The evolution of these malformations is described.
متن کاملVein of galen malformations.
Management of children with high flow arteriovenous shunts of the brain is among the most challenging areas in modern medicine. Intracranial arteriovenous shunts (AVS) in children differ considerably from those seen in adults, in whom brain arteriovenous malformations (AVMs) and acquired dural arteriovenous fistulae predominate. These differences are seen both in the types of lesion and in thei...
متن کاملVein of Galen malformations: review.
Vein of Galen malformations are unique congenital malformations of the cerebral vasculature that result in persistence and 'aneurysmal' dilatation of the venous structures. The varied clinical presentations and their distinctive and complex angioarchitecture make it important for the caring physician to understand their embryological and pathophysiological aspects. Management of these lesions--...
متن کاملArteriovenous malformations involving the vein of Galen.
The vein of Galen is the largest of the deep cerebral veins formed posterior to the pineal body by confluence of the two internal cerebral veins. It curves sharply upward around the splenium of the corpus collosum and drains the deep medially located veins of the diencephalon, basal ganglia, and mid brain. Dilatation of the vein of Galen results from the force of arterial blood either directly ...
متن کاملParkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations.
Capillary malformation-arteriovenous malformation (CM-AVM) is a newly recognized autosomal dominant disorder, caused by mutations in the RASA1 gene in six families. Here we report 42 novel RASA1 mutations and the associated phenotype in 44 families. The penetrance and de novo occurrence were high. All affected individuals presented multifocal capillary malformations (CMs), which represent the h...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 2013
ISSN: 0003-9888,1468-2044
DOI: 10.1136/archdischild-2013-304107.038