case_images: PMC10070962_01
case_images: (A) Standing spinal x-rays showed right convex scoliosis. (B) T1-weighted MRI image showed that the T8 vertebra was flattened and local bone was destroyed (arrow). (C) T2-weighted MRI image showed bone marrow edema in T8 vertebra (arrow).
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case_images: PMC10070962_01_fped-11-1076443-g001.jpg
case_images: F1
case_images: Cobb angle method. Chest MRI showed that the T8 vertebra was flattened and local bone was destroyed with bone marrow edema (Figure 1). T8 vertebra and lower limb skin lesions (Supplementary Figure S1).
case_images: (A) Standing spinal x-rays showed heavier right scoliosis. (B) T1-weighted MRI image and (C) T2-weighted MRI image of the thoracic vertebra showed that the T8 vertebra had a compression fracture (arrow). (D) 99mTc-MDP whole-body bone scintigraphy showing hot spots in T8/9 and right sacroiliac joint with posterior view (circle).
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case_images: PMC10070962_01_fped-11-1076443-g002.jpg
case_images: F2
case_images: T8 vertebra had a severe compression fracture (Figure 2A-C). The right sacroiliac joint and T8/9 regions were shown to have intense absorption by 99mTc-MDP whole-body bone scintigraphy (Figure 2D). MRI of the thoracic spine (Figure 3 and Supplementary Figure S2) were re-examined and showed significant improvement from before. Meanwhile, we extracted peripheral blood genomic DNA from the patient and her parents and performed whole-exome sequencing, which revealed a variation in the LAMB3 gene.
case_images: Imaging changes after six months of therapy. (A) Standing spinal x-ray. (B) T1-weighted and (C) T2-weighted MRI images showed that T8 vertebra remained stable without progression (arrow).
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case_images: PMC10070962_01_fped-11-1076443-g003.jpg
case_images: F3
case_images: MRI of the thoracic spine (Figure 3 and Supplementary Figure S2) were re-examined and showed significant improvement from before. Meanwhile, we extracted peripheral blood genomic DNA from the patient and her parents and performed whole-exome sequencing, which revealed a variation in the LAMB3 gene.