case_images: PMC11002101_01
case_images: (A) An axial non-contrast CT scan shows a fusiform aneurysm of 10 mm diameter of the M1 segment of the left middle cerebral artery with increased density. (B) A three-dimensional (3D) reconstruction of CT angiography of the cerebral arteries shows a fusiform aneurysm involving the ophthalmic and posterior communicating segments of the left internal carotid artery. The course of both internal carotid arteries and the vertebrobasilar system is tortuous. (C) A lateral view of the 3D reconstruction of CT angiography of the cerebral arteries. Cerebral angiography. AP (D,F) and lateral projections (E,G) of internal carotids showing fusiform dilation and tortuosity of both internal carotid arteries from the petrous segment to the terminal segment. No saccular aneurysms are seen. (D,E) Right carotid. (F,G) Left carotid.
case_images: fmed-11-1304168-g002.jpg
case_images: PMC11002101_01_fmed-11-1304168-g002.jpg
case_images: fig2
case_images: Head computed tomography (CT) was ordered to exclude the possibility of a stroke; brain parenchyma showed no abnormalities, but a fusiform dilation of the M1 segment of the left middle cerebral artery with increased density was observed (Figure 2A). CT angiography of the cerebral arteries showed tortuosity of the internal carotid arteries (Figures 2B,C). Cerebral angiography confirmed an extensive dilation of both internal carotids and the vertebrobasilar system with no lesions requiring endovascular treatment and suggestive of a systemic etiology (Figures 2D-G).
case_images: Patient had alopecia of the scalp (A), horizontal stretch marks under the arms (C), and acrogeric appearance of the skin of the hands and feet (B,D).
case_images: fmed-11-1304168-g003.jpg
case_images: PMC11002101_01_fmed-11-1304168-g003.jpg
case_images: fig3
case_images: Physical examination revealed thin lips, abnormal atrophic scarring, thin skin with venous visibility in some areas, alopecia of the scalp, horizontal stretch marks under the arms, and acrogeric appearance of the skin of the hands and feet (Figure 3).
case_images: Pedigree of the patient and family (A), schema of the COL3A1 protein structure, its domains, and localization of the identified variant (B).
case_images: fmed-11-1304168-g004.jpg
case_images: PMC11002101_01_fmed-11-1304168-g004.jpg
case_images: fig4
case_images: Figure 4 shows the patient's pedigree, a schema of the COL3A1 gene and protein, and the site of the variant.