PMC7431878_01
Findings of images, pathological examinations, and DNA sequences. Cerebral MRIs of the (A) transverse view, (B) coronal view, and (C) sagittal view demonstrated frontal and temporal lobe atrophy. CT of muscles of the (D) upper arms, (E) forearms, (F) thighs, and (G) lower legs showed muscle atrophy in the four extremities. (H)
99mTc-HMDP bone scintigraphy of the pelvis revealed active osteoblastic accumulation in the right medial iliac bone. (I) Pelvic CT showed remodeling changes in the corresponding area designated with arrows (H). Microscopic findings. Hematoxylin eosin staining showed multiple rimmed vacuoles in muscle cells (J) and numerous small fibers (K). (L) Gomori trichrome staining demonstrated rimmed vacuoles and small angulated fibers. (M) Genomic DNA analysis revealed a missense mutation in the VCP gene that exchanged CGT (Arg) to T*GT (Cys).
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F1
During the first hospitalization, cerebral MRI showed bilateral frontal and temporal atrophy (Figures 1A-C). During the second hospitalization, CT of the extremities exhibited severe bilateral muscle atrophy of the upper arms, forearms, thighs, and lower legs (Figures 1D-G). During the second hospitalization, 99mTc-HMDP bone scintigraphy showed active osteoblastic accumulation in the right medial iliac bone (Figure 1H), whereas pelvic CT revealed remodeling changes in the corresponding area indicated by arrows (Figure 1I). Hematoxylin and eosin staining of the muscle biopsy specimens demonstrated multiple rimmed vacuoles in muscle cells (Figure 1J) and numerous small fibers and round-shaped fibers (Figure 1K). Gomori trichrome staining showed rimmed vacuoles in muscle cells and small angulated fibers (Figure 1L), which were compatible with the pathological findings of IBMPFD during the first hospitalization. DNA analysis revealed a cytosine (C) to thymine (T) (C T*) mutation, resulting in an amino acid exchange of arginine to cysteine (p.R155C) (Figure 1M) as previously described.