Hirschsprung disease is caused by congenital absence of the Meissner and Auerbach autonomic plexus (aganglionosis) in the intestinal wall. The estimated incidence is 1 in 5000 live births. Disease is usually limited to the distal colon (75% of cases) but can involve the entire colon (5% of cases) or even the entire large and small bowels; the denervated area is always contiguous. Males are more commonly affected (male:female ratio 4:1) unless the entire colon is involved, in which case there is no gender difference.
The etiology of the aganglionosis is thought to be the failure of migration of neuroblasts from the neural crest. There is a significant genetic component to this disorder and at least 12 different genetic mutations are associated with Hirschsprung. The likelihood of disease among family members increases with increasing length of the involved gut—3 to 8% for disease of the distal colon and up to 20% for disease involving the entire colon. About 20 to 25% of patients with Hirschsprung disease have another congenital anomaly, and about 15% have a genetic abnormality (Down syndrome is the most common). About 20% of patients with congenital central hypoventilation syndrome also have Hirschsprung disease; the combination is referred to as Haddad syndrome. About 20% of patients with intestinal neuronal dysplasia (IND) have Hirschsprung disease. Other disorders associated with Hirschsprung disease include Waardenburg syndrome, Bardet-Biedl syndrome, Goldberg-Shprintzen syndrome, and cartilage-hair hypoplasia.
Peristalsis in the involved segment is absent or abnormal, resulting in continuous smooth muscle spasm and partial or complete obstruction with accumulation of intestinal contents and massive dilation of the more proximal, normally innervated intestine. Skip lesions almost never occur.
Patients most commonly present early in life, but some do not present until childhood or even adulthood.
Normally, 98% of neonates pass meconium in the first 24 hours of life. About 50 to 90% of neonates with Hirschsprung disease fail to pass meconium in the first 48 hours of life. Infants present with obstipation, abdominal distention, and, finally, vomiting as in other forms of distal bowel obstruction. Occasionally, infants with ultrashort segment aganglionosis have only mild or intermittent constipation, often with intervening bouts of mild diarrhea, resulting in delay in diagnosis. In older infants and children, symptoms and signs may include anorexia, constipation, lack of a physiologic urge to defecate, and, on digital rectal examination, an empty rectum with stool palpable higher up in the colon and an explosive passage of stool upon withdrawal of the examining finger (blast sign). Infants may also fail to thrive. Less commonly, infants may present with Hirschsprung enterocolitis.
Diagnosis of Hirschsprung disease should be made as soon as possible. The longer the disease goes untreated, the greater the chance of developing Hirschsprung enterocolitis (toxic megacolon), which may be fulminant and fatal. Most patients can be diagnosed in early infancy.
Initial approach is typically with barium enema and/or rectal suction biopsy. Barium enema may show a transition in diameter between the dilated, normally innervated colon proximal to the narrowed distal segment (which lacks normal innervation). Barium enema should be done without prior preparation, which can dilate the abnormal segment, rendering the test nondiagnostic. Because characteristic findings may not be present in the neonatal period, a 24-hour postevacuation x-ray should be taken; if the colon is still filled with barium, Hirschsprung disease is likely. A rectal suction biopsy can disclose the absence of ganglion cells. Acetylcholinesterase staining can be done to highlight the enlarged nerve trunks. Some centers also can do rectal manometrics, which can reveal lack of relaxation of the internal anal sphincter that is characteristic of the abnormal innervation. Definitive diagnosis requires a full-thickness biopsy of the rectum or colon to identify the full extent of the disease and thus plan surgical treatment.
Genetic testing is not routine but may be done if evaluation shows manifestations of a genetic syndrome.
Treatment of Hirschsprung disease is surgical repair by bringing normally innervated bowel to the anus with preservation of the anal sphincters. In the neonate, this had typically been a 2-stage procedure beginning with a colostomy proximal to the aganglionic segment to decompress the colon. Then the neonate was allowed to grow before the 2nd stage of the procedure, in which the entire aganglionic portion of the colon was resected and a pull-through procedure was done. However, many centers now do a 1-stage procedure in the neonatal period for short-segment disease. Results using laparoscopic technique are similar to those of the open method and are associated with shorter hospitalizations, earlier initiation of feeding, and less pain.
After definitive repair, the prognosis is good, although a number of infants have chronic dysmotility with constipation, obstructive problems, or both.
Congenital denervation affects the distal colon and less often larger regions of the colon and sometimes even the small bowel.
Infants typically present with findings of distal bowel obstruction, such as obstipation, abdominal distention, and vomiting.
Barium enema findings (done without prior preparation) and rectal manometry are highly suggestive; diagnosis is confirmed by rectal biopsy.
The affected segment is resected surgically.
The etiology of Hirschsprung enterocolitis seems to be marked proximal dilation secondary to obstruction, with thinning of the colonic wall, bacterial overgrowth, and translocation of gut bacteria. Sepsis or shock can develop (more often when the entire colon is affected by Hirschsprung), and death can follow rapidly; mortality rate is about 1%. Close monitoring of infants with Hirschsprung disease is therefore essential.
Hirschsprung enterocolitis occurs most commonly in the first several months of life before surgical correction but can occur postoperatively, typically in the first year after surgery. Infants with Down syndrome are at increased risk of developing this complication postoperatively. Infants present with fever, abdominal distention, diarrhea (which may be bloody), and, subsequently, obstipation.
A barium enema should not be done in patients suspected of having Hirschsprung enterocolitis because of the risk of perforation.
Initial treatment of Hirschsprung enterocolitis is supportive with fluid resuscitation, decompression with a nasogastric and rectal tube, and broad-spectrum antibiotics to include anaerobic coverage (eg, a combination of ampicillin, gentamicin, and metronidazole; meropenem alone; or piperacillin/tazobactam). Some experts advocate saline enemas in infants who are not critically ill to clean out the colon, but this must be done carefully so as not to increase colonic pressure and cause perforation. Surgery is the definitive treatment for infants who have not yet undergone surgical repair, as well as for those with perforation or necrotic gut. For infants who can be stabilized, definitive surgical therapy can be done instead of the previous standard approach of a diverting ileostomy or colostomy. The previous standard approach should be done in those with severe disease.
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