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"Twig-like" cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report.
We describe a one-and-a half year-old girl child who presented with mild motor developmental delay and on neuroimaging showed septo-preoptic holoprosencephaly, diffuse radial polymicrogyria, and pontine hypoplasia along with magnetic resonance angiographic features suggestive of ACTA2 mutation type of cerebral vessels. However, genetic studies revealed no evidence of ACTA2 mutation, indicating that the "twig-like" pattern may not only be a pathognomonic feature of ACTA2 mutations. PMID: 29591721 [PubMed - as supplied by publisher]
Source: Interventional Neuroradiology - March 30, 2018 Category: Radiology Tags: Interv Neuroradiol Source Type: research

Ultra-High-Field MR Imaging in Polymicrogyria and Epilepsy BRAIN
CONCLUSIONS: 7T imaging reveals more anatomic details of polymicrogyria compared with 3T conventional sequences, with potential implications for diagnosis, genetic studies, and surgical treatment of associated epilepsy. Abnormalities of cortical veins may suggest a role for vascular dysgenesis in pathogenesis.
Source: American Journal of Neuroradiology - February 11, 2015 Category: Radiology Authors: De Ciantis, A., Barkovich, A. J., Cosottini, M., Barba, C., Montanaro, D., Costagli, M., Tosetti, M., Biagi, L., Dobyns, W. B., Guerrini, R. Tags: BRAIN Source Type: research

Pial Arteriovenous Fistula and Capillary Malformation-Arterial Venous Malformation (CM-AVM) Associated with RASA1 Mutation: 2 Illustrative Cases (P2.096)
Conclusion:Genetic testing is recommended in the setting of pAVF and cutaneous vascular lesion to look for RASA1 mutation. Given the high mortality with natural history of developing severe congestive heart failure the goal of treatment even when asymptomatic, is early control of shunt.Disclosure: Dr. Gulati has nothing to disclose. Dr. Manjila has nothing to disclose. Dr. Bambakidis has received personal compensation for activities with Stryker and Anspach as a consultant. Dr. Shahid has nothing to disclose.
Source: Neurology - April 9, 2014 Category: Neurology Authors: Gulati, D., Manjila, S., Bambakidis, N., Shahid, A. Tags: Cerebrovascular Disease and Interventional Neurology: Acquired and Congenital Vascular Malformations Source Type: research