PMC9112655_01
(A) MRI showd the skull base has long T1 and long T2 lesions on the right side of the middle straddle, with flair showing mixed signals; local bone destruction in the lesion. (B) Coronary CTA showed multiple mural thrombus with calcification in the proximal segment of the aortic arch and the three branches of the superior arch, moderate stenosis at the origin of the left common carotid artery. (C) T-G mutation at position 97 in exon 6 of LDL-R gene (arrow).
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F1
The patient had a history of left elbow xanthoma resection (Figure 2D) and familial hypercholesterolemia; the patient's LDL-R genetic test showed a T-G mutation at position 97 in exon 6 (Figure 1C), supporting the diagnosis of homozygous familial hypercholesterolemia (HoFH); her parents had no relevant medical history, and her brother was diagnosed with heterozygous familial hypercholesterolemia (HeFH). MRI showed the following: right middle posterior skull base mixed density mass (size of 4.6 cm x 4.1 cm x 3.7 cm), focal bone destruction (Figure 1A); Coronary CTA showed: Moderate stenosis at the origin of the left common carotid artery(Figure 1B); cholesterol (TC): 14.9 mmol/L, low-density lipoprotein (L-DL): 12.87 mmol/L.
(A) (H&E,X10), (B) (H&E,X40): Pathology showed fibrous tissue hyperplasia with abundant cholesterol fissures, Foam cell aggregation with necrosis and calcification. (C) Xanthomas on the skin of the buttocks. (D) Scar and residual xanthoma after excision of left elbow mass.
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F2
The patient had a history of left elbow xanthoma resection (Figure 2D) and familial hypercholesterolemia; the patient's LDL-R genetic test showed a T-G mutation at position 97 in exon 6 (Figure 1C), supporting the diagnosis of homozygous familial hypercholesterolemia (HoFH); her parents had no relevant medical history, and her brother was diagnosed with heterozygous familial hypercholesterolemia (HeFH). Positive sign: the right eye was incompletely closed, the right frontal lines and nasolabial fold became shallow, right ear hearing loss was observed, and multiple masses were seen in the skin of the right popliteal fossa and buttocks (Figure 2C), and excision of a left elbow mass (Figure 2D). Postoperative pathology showed xanthoma (Figure 2A,B).