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.
Fields of Study & Subjects
Cerebrovascular and genetic disorders
Cerebrovascular and Carotid Artery Diseases
Folate and B Vitamins Research
Publication details
- Journal / source
- Anatolian Journal of Pharmaceutical Sciences
- Volume
- 5
- Issue
- 1
- Pages
- 45–49
- Publication date
- 5 February 2026
- Language
- EN