Figure 8.

Presence of enteric neurons within the human aganglionic intestines. (A) Schematic illustration for preparation of human intestines with the Swiss-roll technique. (B) Representative Swiss-roll colonic section with H&E staining. (C–F) Magnified views of the corresponding boxed areas in panel B. (C’–F’) Magnified views of the corresponding boxed areas from panels C–F. The dotted lines mark the boundaries of hypertrophic nerve trunks. (E’) Arrowheads indicate enteric neurons within the ganglia. (G) Representative Swiss-roll section from the transition zone of an SSHD patient. (H–J) Magnified views of the corresponding areas in panel G, showing the presence of both PHOX2B⁺ neurons and S100⁺ glia within the ganglia. (H) Arrows and arrowheads indicate glia and neurons, respectively. Note the weak PHOX2B signals in S100⁺ glia. Dotted lines indicate the boundaries of individual enteric ganglia. (K) Representative Swiss-roll colonic section from the skip area of the same SSHD patient as in panel G. (L–L’’) Magnified views of the corresponding areas showing the presence of PHOX2B⁺ neurons (arrowheads) and S100⁺ glia (arrows) within the aganglionic colon. Note the weak PHOX2B signals in S100⁺ glia. (M) Magnified view of the boxed area in panel K showing hypertrophic nerve trunks. No PHOX2B⁺ neurons are present within these ganglia. CC, cecum; d, distal; DAPI, 4′,6-diamidino-2-phenylindole; LI, large intestine; p, proximal; SI, small intestine.