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

Year 2026, Volume: 5 Issue: 1, 45 - 49, 05.02.2026

Mehmet Fatih Erbay , Fatih Ahmet Ateş Fatma Ebru Algül

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

https://izlik.org/JA86LF57KS

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.

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.