PMC7813800_01
Radiological and histopathological information of patient II-1. CT (A,B) and GRE T2-weighted MRI (C,D) showed multiple cavernous malformation lesions across the left lateral ventricle and bilateral cerebral hemisphere in the proband, patient II-1. The red arrows show the location of lesions. Histopathological examination revealed vascular malformation associated with bleeding ( ), calcification ( ), and iron deposits ( ) in the proband, patient II-1, at (E) x100, and (F) x100.
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F1
The left lateral ventricle and subcortical regions of the cerebral hemispheres were showed multiple high-intensity patchy calcifications or bleeding from computed tomography (CT) findings (Figures 1A,B). T2-weighted magnetic resonance imaging (MRI) showed a large number of dark spots, and mass of different sizes distributed in the left lateral ventricle, bilateral cerebral hemisphere, and cerebellum (Figures 1C,D), which indicated multiple cavernous malformations. The patient received an operation on the left lateral ventricle lesion. Pathological observations showed vascular malformations (mixed type) associated with bleeding, calcification, and iron deposits (Figures 1E,F).
Pedigree of a Chinese family. Affected patients were diagnosed with CCMs upon T2-weighted MRI or SWI of the brain.
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F2
Here, we display the pedigree of the Chinese family in Figure 2, and all of the detailed clinical information is listed in Table 1.
CCM lesions diagnosed through CT, T2-weighted MRI and SWI. (A-C) SWI of patient I-2 showed hundreds of lesions distributed across the cerebral hemisphere and cerebellum. T2-weighted MRI of patient II-4 showed multiple CCMs in the right temporal lobe (D), frontal and parietal lobes (E), and spinal cord (F,G). CT (H), T2-weighted (I), and contrast MRI (J) of patient II-5 showed lesions with a "popcorn" appearance located in the right lateral ventricle and frontal-parietal lobe with asymmetrical ventricles. (K,L) T2-weighted MRI of patient III-1 showed lesions surrounded by a dark rim of hemosiderin on the right frontal and temporal lobes. (M) T2-weighted MRI of patient III-2 showed a lesion located on the left temporal lobe. (N,O) T2-weighted MRI of patient IV-1 showed lesions on the left temporal lobe and triangle area of the lateral ventricle. (P) T2-weighted MRI of patient IV-2 showed a lesion located in the left triangle area of the lateral ventricle. The red arrows show the CCM lesions.
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F3
Susceptibility-weighted imaging (SWI) of the brain showed hundreds of dark spots and mass of different sizes distributed in the cerebral hemisphere and cerebellum (Figures 3A-C) combined with meningioma at the right parietal lobe. Non-contrast CT revealed a high-intensity calcification or bleeding located in the right lateral ventricle with asymmetrical ventricles (Figure 3H). T2-weighted gradient echo (GE) sequences showed that multiple CCM lesions were distributed in the right lateral ventricle and across the hemisphere without contrast (Figures 3I,J). T2-weighted MRI showed lesions on the left temporal and triangular areas of the lateral ventricle (Figures 3N,O). Patients II-4 (Figures 3D-G), III-1 (Figures 3K,L), III-2 (Figure 3M), and IV-2 (Figure 3P) were asymptomatic.