Extensive Intracranial and Extracranial Dolichoectasia With Pontine Stroke in a Young Woman With Homozygous MTHFR A1298C
Abstract
Intracranial arterial dolichoectasia (IADE) is a rare vasculopathy characterized by elongation, dilatation, and tortuosity of cerebral arteries, typically involving the vertebrobasilar system in elderly men with hypertension. We report a unique case of a 32-year-old woman who presented with pontine infarction, extensive white matter hyperintensities, and diffuse dolichoectatic changes affecting both intracranial anterior and posterior circulations as well as the extracranial internal carotid arteries (ICAs). Hematologic evaluation revealed homozygous MTHFR A1298C mutation. This case underscores the potential genetic and systemic nature of dolichoectasia in young adults, emphasizing the role of early radiologic recognition.
Keywords
Intracranial arterial dolichoectasia, ischemic stroke, MTHFR A1298C mutation, cerebral arteriopathy, white matter hyperintensities
Ethical Statement
This case report did not require ethics committee approval in accordance with institutional and journal
policies. Written informed consent for publication, including the use of clinical data and imaging, was
obtained from the patient.
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