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Case Reports
. 2025 May 26:16:1581625.
doi: 10.3389/fgene.2025.1581625. eCollection 2025.

Case Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall

Linting Gu  1 , Sheng Chen  1 , Wenwei Li  1 , Fanlong Ye  1
Affiliations
Case Reports

Case Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall

Linting Gu et al. Front Genet. .

Abstract

Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by arteriovenous malformations (AVMs) affecting multiple organs. This case report presents a rare case of a 62-year-old female with multiple cerebral infarctions following a fall, subsequently diagnosed with HHT. Clinical features included recurrent epistaxis, tongue telangiectasias, and pulmonary AVMs (PAVMs). Genetic testing identified a novel duplication mutation in the ENG gene, c.680_687dupACTCGGCC (p.G230Tfs*8). Brain MRI revealed multiple unusual infarctions, with SWI findings indicating cerebral microvascular abnormalities. These findings highlight the potential role of chronic hypoperfusion and hemodynamic dysregulation, in addition to paradoxical embolism, in HHT-related stroke mechanisms. The patient's management included antiplatelet therapy adjustment and recommendations for regular imaging and genetic counseling. This case underscores the importance of considering HHT in acute ischemic stroke patients with vascular abnormalities and emphasizes the need for further research into the complex pathophysiology of HHT-related strokes.

Keywords: arteriovenous malformation; case report; endoglin; gene; hereditary hemorrhagic telangiectasias; stroke.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
The family tree with male in □, female in ○, epistaxis in black is shown. P, proband (a). Vascular lesions on the tongue. Vascular lesions on the tongue (b).
FIGURE 2
FIGURE 2
Brain MRI performed 48 h after symptom onset revealed recent infarctions (a–c). Follow-up brain MRI on the 7th day of hospitalization (d–f). SWI on the 7th day of hospitalization revealed scattered speckled hypointense foci in infarcted regions (g–i).
FIGURE 3
FIGURE 3
Multiple PAVMs in the left upper lobe, right middle lobe, and basal segments of both lower lobes.
FIGURE 4
FIGURE 4
A novel mutation of ENG gene (c.680_687dupACTCGGCC) (a,b).
See this image and copyright information in PMC

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