Hirschsprung’s disease, also called congenital megacolon and congenital aganglionic megacolon, is a disorder of the large intestine characterized by an absence or a marked reduction of parasympathetic ganglion cells in the colorectal wall. This congenital disorder impairs intestinal motility and causes severe, intractable constipation. Without prompt treatment, an infant with colonic obstruction may die within 24 hours from enterocolitis that leads to severe diarrhea and hypovolemic shock. With prompt treatment, prognosis is good.
In Hirschsprung’s disease, the aganglionic bowel segment contracts without the reciprocal relaxation needed to propel feces forward. In 90% of patients, this aganglionic segment is in the rectosigmoid area, but it occasionally extends to the entire colon and parts of the small intestine.
Hirschsprung’s disease is believed to be a familial, congenital defect. It’s up to 5 times more common in males than in females. The disease typically coexists with other congenital anomalies, particularly trisomy 21 and anomalies of the urinary tract such as megaloureter.
Clinical effects usually appear shortly after birth, but mild symptoms may not be recognized until later in childhood or during adolescence (usually) or adulthood (rarely). The neonate with Hirschsprung’s disease commonly fails to pass meconium within 24 to 48 hours, shows signs of obstruction (bile-stained or fecal vomiting and abdominal distention), irritability, feeding difficulties (poor sucking and refusal to take feedings), failure to thrive, dehydration (pallor, loss of skin turgor, dry mucous membranes, and sunken eyes), and overflow diarrhea. The infant may also exhibit abdominal distention that causes rapid breathing and grunting. Rectal examination, which may temporarily relieve GI symptoms, reveals a rectum empty of stool and, when the examining finger is withdrawn, an explosive gush of malodorous gas and liquid stool. In infants, the main cause of death is enterocolitis, caused by fecal stagnation that leads to bacterial overgrowth, production of bacterial toxins, intestinal irritation, profuse diarrhea, hypovolemic shock, and perforation.
The older child has intractable constipation (usually requiring laxatives and enemas), abdominal distention, and easily palpated fecal masses. In severe cases, failure to grow is characterized by wasted extremities and loss of subcutaneous tissue, with a large protuberant abdomen.
Adult megacolon, although rare, usually affects men. Patients have abdominal distention, rectal bleeding (rare), and a history of chronic intermittent constipation. They’re generally in poor physical condition.
Significantly, infants with Hirschsprung’s disease retain barium longer than the usual 12 to 24 hours, so delayed films are usually helpful when other characteristic signs are absent. Other tests include rectal manometry, which detects failure of the internal anal sphincter to relax and contract, and upright plain films of the abdomen, which show marked colonic distention.
Surgical treatment involves pulling the normal ganglionic segment through to the anus. However, corrective surgery is usually delayed until the infant is about 6 months old so that he’s better able to withstand surgery. Postsurgical management should focus on reestablishing normal fluid and electrolyte balance, preventing bowel distention, and managing complications such as sepsis. Treatment measures include I.V. hydration, nasogastric decompression, and I.V. antibiotics as indicated. Management until the infant is old enough for surgery may consist of daily colonic lavage to empty the bowel. Physiologic saline solution should be used rather than tap water to prevent water intoxication. If total obstruction is present in the neonate, a temporary colostomy or ileostomy is necessary to decompress the colon. Antibiotics are given if the bowel has been perforated or if the infant has enterocolitis.
Before emergency decompression surgery:
❑ Maintain fluid and electrolyte balance, and prevent shock.
❑ Provide adequate nutrition, and hydrate with I.V. fluids, as needed. Transfusions may be necessary to correct shock or dehydration.
❑ Relieve respiratory distress by keeping the patient in an upright position (place an infant in an infant seat).
After colostomy or ileostomy:
❑ Monitor the patient’s vital signs, watching for sepsis and enterocolitis (increased respiratory rate with abdominal distention).
❑ Monitor and record fluid intake and output (including drainage from ileostomy or colostomy) and electrolytes. Ileostomy is especially likely to cause excessive electrolyte loss. Also, measure and record nasogastric (NG) tube drainage and replace fluids and electrolytes, as ordered. Check stools carefully for excess water — a sign of fluid loss.
❑ If the infant is receiving hyperalimentation, check urine for specific gravity and glucose (hyperalimentation may lead to osmotic diuresis).
❑ To prevent aspiration pneumonia and skin breakdown, turn and reposition the patient often. Also, suction the nasopharynx frequently.
❑ Keep the area around the stoma clean and dry, and cover it with dressings or a colostomy or ileostomy appliance to collect drainage. Use aseptic technique until the wound heals. Watch for prolapse, discoloration, or excessive bleeding. (Slight bleeding is common.) To prevent excoriation, use a powder, such as karaya gum, or a protective stoma disk.
❑ Oral feeding can begin when bowel sounds return. An infant may tolerate predigested formulas best.
❑ Teach parents to recognize the signs of fluid loss and dehydration (decreased urine output, sunken eyes, and poor skin turgor) and of enterocolitis (sudden marked abdominal distention, vomiting, diarrhea, fever, and lethargy).
❑ Before discharge, if possible, make sure the parents consult with an enterostomal therapist for information on ostomy care.
Before corrective surgery:
❑ As ordered, perform colonic lavage with normal saline solution to evacuate the colon. Keep accurate records of how much lavage solution is instilled. Repeat lavage until the return solution is completely free from fecal particles.
❑ Administer antibiotics for bowel preparation, as ordered.
After corrective surgery:
❑ Keep the wound clean and dry, and check for significant inflammation (some inflammation is normal). Don’t use a rectal thermometer or suppository until the wound has healed. After 3 to 4 days, the infant will have a first bowel movement, a liquid stool, which will probably create discomfort. Record the number of stools.
❑ Check urine for blood, especially in a boy; extensive surgical manipulation may cause bladder trauma.
❑ Watch for signs of possible anastomotic leaks (sudden development of abdominal distention unrelieved by gastric aspiration, temperature spike, and extreme irritability), which may lead to pelvic abscess.
❑ Begin oral feedings when active bowel sounds begin and NG tube drainage decreases. As an additional check, clamp the NG tube for brief, intermittent periods, as ordered. If abdominal distention develops, the patient isn’t ready to begin oral feedings. Begin oral feedings with clear fluids, increasing bulk as tolerated.
❑ Instruct parents to withhold foods that have increased the number of stools previously. Reassure them that their child will probably gain sphincter control and be able to eat a normal diet, but warn that complete continence may take several years to develop and that constipation may recur at times.
❑ Because an infant with Hirschsprung’s disease needs surgery and hospitalization so early in life, parents have difficulty establishing an emotional bond with their child. To promote bonding, encourage them to participate in their child’s care as much as possible.
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Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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Title: Professional Guide to Diseases (Eighth Edition)
Authors: Springhouse
Publisher: Lippincott Williams & Wilkins
Copyright: 2005
ISBN: 1-58255-370-X
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