F D'Arco1, C A Alves2, C Raybaud3, W K K Chong4, G E Ishak5, S Ramji6, M Grima7, A J Barkovich8, V Ganesan9,10. 1. From the Departments of Radiology (F.D'A., W.K.K.C.) darcofel@gmail.com. 2. Radiology Department (C.A.A.), Hospital Das Clinicas, Sao Paulo, Brazil. 3. Department of Diagnostic Imaging (C.R.), Hospital for Sick Children, Toronto, Ontario, Canada. 4. From the Departments of Radiology (F.D'A., W.K.K.C.). 5. Department of Radiology (G.E.I.), Seattle Children's Hospital, University of Washington School of Medicine, Seattle, Washington. 6. Department of Radiology (S.R.), Imperial College Healthcare National Health Service Trust, London, UK. 7. Department of Radiology (M.G.), University Hospital of North Staffordshire National Health Service Trust, Stoke-on-Trent, UK. 8. Department of Radiology and Diagnostic Imaging (A.J.B.), University of California, San Francisco, San Francisco, California. 9. Neurology (V.G.), Great Ormond Street Hospital for Children National Health Service Foundation Trust, London, UK. 10. Neuroscience Unit (V.G.), UCL Great Ormond Street Institute of Child Health, London, UK.
Abstract
BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed. MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported. RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent "squeezing" of the cerebral peduncles in 85% of the patients. CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.
BACKGROUND AND PURPOSE: Arg179His mutations in ACTA2 are associated with a distinctive neurovascular phenotype characterized by a straight course of intracranial arteries, absent basal Moyamoya collaterals, dilation of the proximal internal carotid arteries, and occlusive disease of the terminal internal carotid arteries. We now add to the distinctive neuroimaging features in these patients by describing their unique constellation of brain malformative findings that could flag the diagnosis in cases in which targeted cerebrovascular imaging has not been performed. MATERIALS AND METHODS: Neuroimaging studies from 13 patients with heterozygous Arg179His mutations in ACTA2 and 1 patient with pathognomonic clinicoradiologic findings for ACTA2 mutation were retrospectively reviewed. The presence and localization of brain malformations and other abnormal brain MR imaging findings are reported. RESULTS: Characteristics bending and hypoplasia of the anterior corpus callosum, apparent absence of the anterior gyrus cinguli, and radial frontal gyration were present in 100% of the patients; flattening of the pons on the midline and multiple indentations in the lateral surface of the pons were demonstrated in 93% of the patients; and apparent "squeezing" of the cerebral peduncles in 85% of the patients. CONCLUSIONS: Because α-actin is not expressed in the brain parenchyma, only in vascular tissue, we speculate that rather than a true malformative process, these findings represent a deformation of the brain during development related to the mechanical interaction with rigid arteries during the embryogenesis.
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