PMC6085819_01
The patient's clinical features. (A) beaked nose and sparse scalp. (B) "bird" face and sparse eyebrows, exophthalmos. (C,D) lipoatrophy and skin pigmentation. Informed consent was obtained from the patient and his parents for all images referenced above to appear in Frontiers.
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F1
His features were as follows: beaked nose (Figure 1A), "bird" face, light, and sparse scalp and body hair, no obvious armpit hair or eyebrows, exophthalmos (Figure 1B), hoarse voice, lipoatrophy, skin pigmentation (Figures 1C,D), severe abdominal aortic, and peripheral artery disease, cerebral haemorrhage (Figures 2A,B), and erectile dysfunction.
Cerebral haemorrhage. (A) cerebral haemorrhage was noted in the right occipital lobe. (B) further cerebral haemorrhage in the right occipital lobe. (C,D) large area of cerebral haemorrhage in the left medial temporoparietal area.
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F2
His features were as follows: beaked nose (Figure 1A), "bird" face, light, and sparse scalp and body hair, no obvious armpit hair or eyebrows, exophthalmos (Figure 1B), hoarse voice, lipoatrophy, skin pigmentation (Figures 1C,D), severe abdominal aortic, and peripheral artery disease, cerebral haemorrhage (Figures 2A,B), and erectile dysfunction. An initial brain computed tomography (CT) scan showed that the right occipital lobe was haemorrhagic with approximately 1.5 ml (Figure 2B). Once-daily atorvastatin (20 mg) was prescribed; however, another large cerebral haemorrhage developed 8 months post-discharge (Figures 2C,D).
Heterotopic calcification. (A-C) Arterial calcification. (D) Calcification of head. (E) Intracranial calcification. (F) Mitral calcification.
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F3
CT angiography revealed plaque formation in, and vascular calcification of, the aortic arch, bilateral subclavian artery, brachiocephalic trunk, proximal internal carotid artery, aorta abdominalis, and arteria iliaca communis (Figures 3A-D). Intracranial calcification was also revealed on CT (Figure 3E). Doppler ultrasonography showed mitral calcification (Figure 3F).
LMNA gene sequences LMNA mutation within exon 5: c.898G>C, p.Asp300His in the patient's sequence versus his parents' sequences.
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F4
There were no WRN mutations (Figure 4).