Hirschsprung disease


In Hirschsprung disease Variable length of intestinal aganglionosis of the hindgut.   Rectosigmoid is the aganglionosis transition point for 80% of  Hirschsprung disease patients. Hirschsprung disease cab be Familial or sporadic.

Hirschsprung disease

Hirschsprung disease

Up to 7.8% of Hirschsprung disease cases occur in patients for whom more than one family member is affected.

Mutations in the RET protooncogene have been found in both familial and sporadic cases.

Diagnosis of Hirschsprung disease

History

Neonates: abdominal distention, infrequent defecation, failure to pass meconium within the first 48 hours of life, or enterocolitis with sepsis.

Signs & Symptoms of Hirschsprung disease

Older infants and children present with chronic constipation or failure to thrive.

Investigation of Hirschsprung disease

Radiology

Plain abdominal radiographs commonly show a pattern of distal obstruction in Hirschsprung disease.

Barium enema

Usually demonstrates a transition zone between distal nondilated bowel and proximal dilated bowel. Most common in the rectosigmoid, but may be seen anywhere in the colon. Total colonic aganglionosis: no transition zone.

Pathology

Rectal biopsy is essential for making the diagnosis.

Full-thickness specimens are the ideal tissue samples to allow identification of the absence of ganglion cells. In neonates, rectal suction biopsy often is sufficient for diagnosis.

Preoperative management

Colonic decompression to prevent enterocolitis. Saline enemas may be used to evacuate impacted stool.Nasogastric tube should be placed if the child is vomiting.

trans Hirschsprung disease

Operative treatment of Hirschsprung disease

Goals of surgical management of Hirschsprung disease  are removal of aganglionic bowel and reconstruction of the intestinal tract by bringing the innervated bowel down to the anus while maintaining normal sphincter function.

  • Primary pull-through
  • Swenson.
  • Duhamel.
  • Soave.
  • Laparoscopic endorectal pull-through (Georgeson).
  • Transanal endorectal pull-through (Langer).

Each of these operations has been modified to improve functional results and may be performed in the newborn period, although surgery may delayed to allow for increased weight gain or resolution of enterocolitis. Advocates of the last two approaches cite decreased recovery time, decreased hospital stay, decreased complications, a potential for decreased adhesions, and decreased cost as some of the advantages of minimal-access approaches in comparison with open transabdominal procedures

trans Hirschsprung disease

Diverting colostomy

  • Performed proximal to aganglionic segment in patients who are unstable or who have massively dilated bowel.Daily rectal irrigations may obviate the need for a colostomy.

References 

http://www.ncbi.nlm.nih.gov/pubmed?term=Hirschsprung%20disease