PMC9745312_01
A 4-year-old boy patient. (A) The child has severe growth retardation; he showed distinctive facial features, scalp veins, generalized alopecia with sparse downy hairs, narrow nasal bridge, thin lips, and micrognathia. (B) Dry and stiff skin on the entire body, poor elasticity, and a lot of mottled pigmentation on the trunk. (C) Flexion deformity of the proximal phalangeal joints of both the fingers. (D) The shape of the head is enlarged, the anterior fontanelle and cranial suture are not closed, and the cranial plate of the parietal occipital region is thinned. (E) Multiple deformities of the ribs on both sides, dysplasia of the clavicle and scapula on both sides. (F) Cranial MRI at the time of onset: Multiple abnormal signals around the lateral ventricle. (G) Cranial MRA at the time of onset: The red arrow indicates bilateral internal carotid artery stenosis. (H) After the 3-month review, Cranial MRI: bilateral paraventricular lacunar infarction. (I) After the 3-month review, Cranial MRA: The red arrow indicates bilateral internal carotid artery stenosis similar to that noted earlier.
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F1
On examination, the child showed distinctive facial features, with prominent eyes and scalp veins, delayed closure of the anterior fontanelle, generalized alopecia with sparse downy hairs, narrow nasal bridge, thin lips, micrognathia, and small ear lobes (Figure 1A). Brinell's sign is negative, Klinefelter's sign is negative, Babbitt's sign is positive on both sides, tendon reflexes are present, limb muscle strength is grade IV, muscle tension is high , and the skin on the entire body is stiff with poor elasticity, and a lot of mottled pigmentation is present on the trunk (Figure 1B). Bilateral metacarpophalangeal joint contracture deformity (Figure 1C), lexion deformity of both the proximal knuckles, squatting difficulty, and hip and knee joint contractures were fixed, and a horse-riding posture was detected. His lateral skull X-ray revealed cranial dysplasia (Figure 1D). Chest X-ray showed bilateral clavicle dysplasia and bilateral rib deformity (Figure 1E). Brain MRI revealed multiple abnormal signals in the bilateral frontoparietal cortex, bilateral semiovale center, and lateral ventricle, as well as multiple abnormal signals in the deep frontoparietal white matter, suggesting cerebral infarction (Figure 1F). His cranial MRA revealed bilateral internal carotid artery stenosis with basilar artery and thickening of the bilateral posterior communicating artery (Figure 1G). A re-examination of his head MRI after 3 months revealed bilateral paraventricular and central semiovale lacunar infarction (Figure 1H). A re-examination after 3 months of head MRA bilateral internal carotid artery was similar to the previous one (Figure 1I).
PMC9745312_02
An 8.5-year-old boy patient. (A) The child showed distinctive facial features, with prominent forehead, baldness, exposed scalp veins, long and narrow nose, thin upper lip, and micrognathia. (B) The child exhibited flexion deformity of the distal knuckle joints of both the fingers, abduction of the bilateral wrist. (C) Anteroposterior pelvis X-ray showed bilateral hip dysplasia, bilateral femoral heads laterally positioned and left femoral head aseptic necrosis. (D) Long bones with thin diaphysis, widened metaphysis, and decreased bone density. (E) Cranial MRI at the time of onset: multiple abnormal signal shadows in the lateral ventricle. (F) Cranial MRA at the time of onset: bilateral internal carotid artery stenosis. The red arrow indicates internal carotid artery stenosis, and the yellow arrow indicates left anterior cerebral artery stenosis. (G) After the 3-month review, cranial MRI: multiple abnormal signal shadows in the lateral ventricle, and the left basal Nodal lesions. (H) After the 3-month review, cranial MRA: his left internal carotid artery, left middle cerebral artery and left cerebral artery had stenosis. The red arrow indicates internal carotid artery stenosis, the blue arrow indicates left middle cerebral artery stenosis, and the yellow arrow indicates left anterior cerebral artery stenosis.
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F2
Physical examination: Similar to case 1, there is progeria appearance, which is manifested as a prominent forehead, baldness, exposed scalp veins, long and narrow nose, thin upper lip, micrognathia, and irregular dentition (Figure 2A). The child exhibited flexion deformity of the distal knuckle joints of both the fingers (Figure 2B), abduction of the bilateral wrist and hip joints, flexion of the bilateral wrist and ankle joints, and anteversion of the spine. Chest X-ray showed bilateral clavicle dysplasia and bilateral rib deformity; anteroposterior pelvis X-ray showed bilateral hip dysplasia, bilateral femoral heads laterally positioned and left femoral head aseptic necrosis (Figure 2C); and the long bones of his limbs were thin and dry (Figure 2D). The EEG was normal, and his head MRI revealed that the bilateral frontal lobes were small, with multiple abnormal signal shadows in the bilateral center of the semiovale and the lateral ventricle (Figure 2E). A1 segment of the left anterior cerebral artery was narrower than the contralateral one (Figure 2F). After the 3-month review, his head MRI revealed multiple abnormal signal shadows in the two cerebral hemispheres indicating an ischemic foci, the left basal Nodal lesions, and cerebral infarction to be discharged (Figure 2G). At re-examination after 3 months, his brain MRA revealed stenosis of his left internal carotid artery, left middle cerebral artery and left cerebral artery (Figure 2H).