PMC8493302_01
Colonoscopy showing an edematous sigmoid colon with (A) ulcerated (B) reddish surface (C, D) covered by exudates.
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As a result, colonoscopy was performed revealing the emergence of an extremely edematous reddish mucosa and ulcerations covered by exudates lining the sigmoid and the ascending colon (Figure 1A-D).
Surgical findings and gross appearance of an (A) edematous (B) perforated sigmoid colon.
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At surgery, an old perforated necrotic area was spotted necessitating resection of the whole sigmoid (Figure 2A). Grossly, the colon had multiple perforations, a stricture, and an inflamed and thickened area to the point where it almost closed the lumen (Figure 2B).
(A) Diffuse intestinal ganglioneuromatosis (H&E), (B) clusters of mature ganglion cells within bland, Schwannian stroma (H&E, x200), (C) diffuse, poorly demarcated proliferation of nerve ganglion cells (H&E, x400).
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Histologically, the H&E-stained sections of the sigmoid colon demonstrated extensive erosion of the overlying mucosa, interlacing fascicles of spindle-shaped cells that had Schwannian features, as well as ganglion cells in the muscularis propria and the submucosa of the sigmoid (Figure 3A-C).
Immunohistochemical staining: (A) S100 staining highlights ganglion cells and abnormal nerve fibers, (B) positive synaptophysin staining.
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Immunohistochemical stains were positive for S100 and synaptophysin (Figure 4A and B), confirming the diagnosis of diffuse colonic ganglioneuromatosis.