Figure 5
Examination of autopsy tissues from patient B demonstrates abnormal glycogen accumulation in multiple organs and cell types. (a) Skeletal muscle, deltoid (HRLM with Richardson's/ PAS stain, × 400); (b) Skeletal muscle, diaphragm (HRLM with Richardson's/ PAS stain, × 400); (c) Nerve from diaphragm: glycogen can be seen in Schwann cell cytoplasm (HRLM with Richardson's/ PAS stain, × 1000); (d) Heart, interventricular septum (HRLM with Richardson's/ PAS stain, × 600); (e) Bladder, smooth muscle cells of the muscularis propria (HRLM with Richardson's/ PAS stain, × 400); (f) Large artery, smooth muscle cells of the media (HRLM with Richardson's/ PAS stain, × 1000); (g) Cerebellum: glycogen accumulation can be seen in a Purkinje cell (HRLM with Richardson's/PAS stain, × 600); (h) Frontal lobe: glycogen accumulation in a neuron (HRLM with Richardson's/ PAS stain, × 1000). (i) Spinal cord: lysosomal glycogen can be seen in motor neurons of the ventral horn (HRLM with Richardson's/PAS stain, × 400); (j) Cardiomyocyte of the interventricular septum contains multiple glycogen-filled lysosomes adjacent to the nucleus. (EM: × 28 000). (k) Clusters of membrane-bound glycogen vacuoles are present in motor neurons of the ventral horn (EM: × 8800). (l) Myelin sheaths of nerve fibers exhibit splitting (EM: × 44 000).
