“Twig-like” cerebral vessels are not pathognomonic for ACTA A2 mutations: A case report

Author:

Nagarajan Krishnan1ORCID,Swamiappan Elango1,Anbazhagan Sathiaprabhu1,Dalal Ashwin2,Adithan Subathra1,Krings Timo3

Affiliation:

1. Departments of Radio-Diagnosis & Neurosurgery, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India

2. Centre for DNA Fingerprinting and Diagnostics (CDFD), Hyderabad, India

3. Toronto Western Hospital & University Health Network, University of Toronto, Toronto, Canada

Abstract

ACTA2 mutations are recently described genetically defined abnormalities of blood vessels in various organs of the body with specific abnormalities in cerebral vessels in the form of straightening of all cerebral arteries (“twig-like” pattern), stenosis/occlusions, proximal dilatation, and absent “moyamoya” type of collaterals. 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.

Publisher

SAGE Publications

Subject

Immunology

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Twiglike MCA: A Not-So-Common Cerebral Vascular Anomaly;Neurographics;2021-12-01

2. Monogenetic Stroke Syndromes in Children and Young Adults;American Journal of Roentgenology;2020-09

3. Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations;American Journal of Neuroradiology;2018-09-27

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