Extensive Intracranial and Extracranial Dolichoectasia With Pontine Stroke in a Young Woman With Homozygous MTHFR A1298C

Mehmet Fatih Erbay; Fatih Ahmet Ateş; Fatma Ebru Algül

doi:10.71133/anatphar.1834333

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

References

[1] Del Brutto VJ, Ortiz JG, Biller J. Intracranial arterial dolichoectasia. Front Neurol, 2017;8:344.
[2] Pico F, Labreuche J, Touboul PJ, Amarenco P. Intracranial arterial dolichoectasia and its relation with atherosclerosis and stroke subtype. Neurology, 2003;61(12):1736–1742.
[3] Zhang DP, Yin S, Zhang HL, Li D et al. Association between intracranial arterial dolichoectasia and cerebral small vessel disease and its underlying mechanisms. J Stroke, 2020;22(2):173.
[4] McCarty JL, Leung LY, Peterson RB, Sitton CW et al. Ischemic infarction in young adults: a review for radiologists. Radiographics, 2019;39(6):1629–1648.
[5] Gutierrez J, Sacco RL, Wright CB. Dolichoectasia—an evolving arterial disease. Nat Rev Neurol, 2011;7(1):41–50.
[6] Lv Z, Jiang W, Song H. MTHFR polymorphism and ischemic stroke risk. Genet Mol Res, 2015;14(4):13093–13102.
[7] Pico F, Labreuche J, Amarenco P. Pathophysiology, presentation, prognosis, and management of intracranial arterial dolichoectasia. Lancet Neurol, 2015;14(8):833–845.
[8] Karacabey BN. MTHFR A1298C homozygous polymorphism in an infant with acute ischemic stroke: case report. J Child Health Neurol, 2020.
[9] Masuoka T, Hayashi N, Hori E et al. Distribution of internal elastic lamina and external elastic lamina in the internal carotid artery. Neurol Med Chir (Tokyo), 2010;50(3):179–182.
[10] Klerk M, Verhoef P, Clarke R et al. MTHFR 677C→T polymorphism and risk of coronary heart disease: metaanalysis. JAMA, 2002;288(16):2023–2031.

[11] Dikmen M, Ozdemir G. Effect of MTHFR gene polymorphisms on plasma homocysteine levels in acute stroke patients. Turk J Med Sci, 2004;34(1):55–61. [12] Sharma R, Asiri A, Yamada Y et al. Extracranial internal carotid artery aneurysm. Asian J Neurosurg, 2019;14(3):970–974.
[13] Deng D, Cheng FB, Zhang Y et al. Morphological analysis of vertebral and basilar arteries. Surg Radiol Anat, 2012;34:645–650.
[14] Zhai FF, Yan S, Li ML et al. Intracranial arterial dolichoectasia and stenosis. Stroke, 2018;49(5):1135–1140.
[15] Wang X, Qin X, Demirtas H. Homocysteine-mediated elastin degradation in arterial disease. Atherosclerosis,2017;258:79–87.
[16] Zhao L, Li T, Dang M et al. MTHFR rs1801133 polymorphism and ischemic stroke risk. Front Genet, 2023;13.
[17] Alluri RV, Mohan V, Komandur S. MTHFR C677T mutation as a risk factor for arterial stroke. J Clin Neurosci, 2005;12(5):459–462.

Details

Primary Language

English

Subjects

Radiology and Organ Imaging

Journal Section

Case Report

Authors

Mehmet Fatih Erbay ^*
0000-0002-1596-3147
Türkiye

Fatih Ahmet Ateş This is me
0000-0002-5518-7883
Türkiye

Fatma Ebru Algül This is me
0000-0003-0318-7571
Türkiye

Publication Date

February 5, 2026

Submission Date

December 2, 2025

Acceptance Date

January 7, 2026

Published in Issue

Year 2026 Volume: 5 Number: 1

DOI

https://doi.org/10.71133/anatphar.1834333

IZ

https://izlik.org/JA86LF57KS

EndNote

Erbay MF, Ateş FA, Algül FE (February 1, 2026) Extensive Intracranial and Extracranial Dolichoectasia With Pontine Stroke in a Young Woman With Homozygous MTHFR A1298C. Anatolian Journal of Pharmaceutical Sciences 5 1 45–49.

Content of this journal is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Our journal's publication policies have been verified and listed by Sherpa Romeo.

Extensive Intracranial and Extracranial Dolichoectasia With Pontine Stroke in a Young Woman With Homozygous MTHFR A1298C

Abstract

Keywords

References

Details

Primary Language

Subjects

Journal Section

Authors

Publication Date

Submission Date

Acceptance Date

Published in Issue

DOI

IZ

Cite