The Appendix and Aganglionosis. A Note of Caution-How the Histology Can Mislead the Surgeon in Total Colonic Hirschsprung Disease

Abstract

We present the case of a child with presumed total colonic Hirschsprung disease (HD) to highlight the problems the surgeon is likely to encounter if he/she relies on the appendix alone for histopathologic diagnosis. A newborn male infant, who was presumed to have total colonic aganglionosis when the appendix was found to be aganglionic at the time of initial exploratory laparoscopy, was managed with an ileostomy in the newborn period; however, at the time of his planned pull-through procedure, the rectal biopsy revealed normal ganglion cells. The child was subsequently managed with ileostomy closure and observed for normal feeding and stooling prior to discharge home. We discuss the histopathologic findings of the appendix in separate cases of confirmed total colonic HD seen in our center, and review the normal histopathologic findings of the appendix.

Keywords: Hirschsprung; appendix; histopathology.

Fig. 1

H&E stain (×100). Representative example of a normal suction rectal biopsy with several groups of ganglion cells seen in the submucosa.

Fig. 2

H&E stain (×100). Appendix of a 5-week-old infant—normal appendix removed during Ladd procedure. Ganglion cells in the myenteric plexus shown by the arrow. The muscularis propria is indicated by the solid line. IML, inner muscular layer; OML, outer muscular layer.

Fig. 3

H&E stain (×100). Appendix—ganglion cells along the outer submucosa shown at the arrow. The muscularis propria is indicated by the solid line. IML, inner muscular layer; OML, outer muscular layer.

Fig. 4

H&E stain (×100). Appendix of a 4-day-old infant with total colonic Hirschsprung disease (HD). Despite absence of ganglion cells in the entire colon, there were ganglion cells in the submucosa of the appendix as shown by the arrows. The muscularis propria is indicated by the solid line. IML, inner muscular layer; OML, outer muscular layer.

Fig. 5

H&E stain (×100). Appendix of a 3-day-old infant with total colonic Hirschsprung disease (HD). No ganglion cells in the appendix. The normal location of the myenteric plexus is designated by arrows. The muscularis propria is indicated by the solid line. IML, inner muscular layer; OML, outer muscular layer.