Therapeutic approaches in Hirschsprung's disease: clinical cases

Abstract

Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon, resulting in impaired peristalsis and functional intestinal obstruction. This condition affects approximately 1 in 5,000 newborns, with a higher prevalence in boys. Although first identified in the 17^th century, its connection to chronic constipation was clearly established by Harald Hirschsprung in 1886. Contemporary treatment strategies emphasize early diagnosis, surgical excision of the aganglionic segment, and specialized postoperative care to restore normal colonic function and improve the quality of life for affected individuals. This article reviews current therapeutic strategies, highlighting advanced surgical techniques, diagnostic methods, and postoperative management. Two clinical cases illustrate the impact and treatment of the disease. The first case involves a 5-month-old male with severe malnutrition, dehydration, and acute enterocolitis, who underwent a right-side colostomy and later a Duhamel-type extramucosal sphincter-rectal-myotomy, showing favorable progress. The second case is a 1.5-year-old patient with a history of colostomy and ileostomy, requiring further surgery. Histopathological examinations in both cases revealed the absence of ganglion cells, confirming the diagnosis of Hirschsprung's disease.

Keywords: Hirschsprung’s disease; clinical cases; congenital megacolon.

Figure 1

Pre- and postoperative irrigography

Figure 2

Rectal biopsy specimen showing hyperplasia of neural filaments in the myenteric plexus, with no ganglion cells identified on hematoxylin and eosin stain. A, Hyperplasia of neural filaments; B, Aganglionosis in the myenteric plexus; C, Hyperplasia of neural filaments and aganglionosis in the myenteric plexus on hematoxylin and eosin stain.

Figure 3

Schematic representation of aganglionic segment resection and sigmoid colon mobilization during Duhamel procedure. A, Aganglionic segment to be resected; B, Region of the sigmoid colon with aganglionosis; C, Proximal colostomy segment mobilized toward the posterior rectum, the transanal excision performed having a diameter at least two times greater than the diameter of the descended intestine; D, Lateral anal sphincterotomy with sphincter and anal opening weakening. Source: Handaya AY, Fauzi AR, Andrew J, Hanif AS. Modified Duhamel with lateral anal sphincterotomy and coloanal stump for adult Hirschsprung's disease: A case series. Int J Surg Case Rep. 2020;77:174-177. doi: 10.1016/j.ijscr.2020.10.066.

Figure 4

Visualization of intestine lowering and mobilization in relation to the anal canal following surgical intervention. E, Intestine lowered and mobilized at least 10 cm outside the anal canal. Source: Handaya AY, Fauzi AR, Andrew J, Hanif AS. Modified Duhamel with lateral anal sphincterotomy and coloanal stump for adult Hirschsprung's disease: A case series. Int J Surg Case Rep. 2020;77:174-177. doi: 10.1016/j.ijscr.2020.10.066.

Figure 5

Colectomy specimen with muscular wall present on 5.5 cm proximally with a maximum caliber of 1 cm. A, Submucosa with hyperplasia of neural filaments with a filiform appearance; B, Colonic wall with autonomic innervation in the submucosa or muscularis propria; C, Colonic wall with aganglionosis of the submucosal and myenteric plexuses.

Figure 6

Pre- and postoperative irrigography

Figure 7

The Soave procedure. Source: Valverde A, Goasguen N, Oberlin O, Mosnier H. Video-assisted transanal proctectomy using the SILS® monotrocar. J Visc Surg. 2013 Feb;150(1):33-43. doi: 10.1016/j.jviscsurg.2013.01.008