Hirschsprung Disease (Aganglionic Megacolon) Nursing Care Management

Hirschsprung disease is a congenital absence of nerve cells in a segment of bowel, so that segment cannot relax and stool stops moving. The result is a functional obstruction that shows up as persistent constipation, abdominal distention, and, in the newborn, failure to pass meconium. Most cases declare themselves in infancy or early childhood, and your priority is catching it early, because the real killer here is enterocolitis, not the constipation itself.

What is Hirschsprung Disease

Congenital aganglionic megacolon, also called Hirschsprung disease, is persistent constipation from partial or complete mechanical intestinal obstruction. Harold Hirschsprung first described it in 1886 as a cause of constipation in early infancy. Early recognition and surgical correction protect affected infants from enterocolitis and debilitating constipation.

Pathophysiology

The disease results from absence of enteric neurons in the myenteric and submucosal plexus of the rectum and/or colon. Enteric neurons derive from the neural crest and migrate caudally with the vagal nerve fibers along the intestine, reaching the proximal colon by 8 weeks gestation and the rectum by 12 weeks gestation. When that migration arrests, an aganglionic segment is left behind, and that segment produces clinical Hirschsprung disease.

Statistics and Incidences

Aganglionic megacolon occurs in roughly 1 per 5000 live births, though prevalence varies by region and runs as high as 1 per 3000 live births in the Federated States of Micronesia. The overall mortality of Hirschsprung enterocolitis is 25 to 30%, which accounts for almost all deaths from the disease. It is about 4 times more common in males than females. Nearly all children are diagnosed during the first 2 years of life, about one-half before age 1 year, though a small number go unrecognized until later childhood or adulthood.

Causes

The disease is generally sporadic, though familial incidence has been rising; multiple loci are involved, including chromosomes 13q22, 21q22, and 10q. Mutations in the Ret proto-oncogene are associated with multiple endocrine neoplasias (MEN) 2A or MEN 2B and familial Hirschsprung disease; other associated genes include the glial cell-derived neurotrophic factor gene, the endothelin-B receptor gene, and the endothelin-3 gene. The disease is strongly tied to Down syndrome, with 5 to 15% of patients also having trisomy 21; other associations include Waardenburg syndrome, congenital deafness, malrotation, gastric diverticulum, and intestinal atresia.

Clinical Manifestations

Infants show tympanitic abdominal distention and signs of intestinal obstruction. Older infants and children usually present with chronic constipation, and on abdominal exam may show marked distention with palpable dilated loops of colon. In the newborn period, the tell is failure to pass meconium. Repeated vomiting follows from the obstruction, and chronic constipation drives poor nutrition through early satiety, abdominal discomfort, and distention.

Assessment and Diagnostic Findings

Order a CBC if enterocolitis is suspected; an elevated WBC count or bandemia should raise that concern. Get plain abdominal radiography for any signs of obstruction. If perforation and enterocolitis are not suspected, an unprepared single-contrast barium enema can establish the diagnosis by showing a transition zone between the narrowed aganglionic segment and the dilated, normally innervated segment, and may reveal a nondistensible rectum, a classic sign. Rectal biopsy confirms the diagnosis. In older children with chronic constipation and an atypical history, anorectal manometry helps make or exclude the diagnosis.

Medical Management

If a child has signs of high-grade obstruction, start IV hydration, withhold enteral intake, and decompress the intestine and stomach. Decompression uses a nasogastric tube plus either digital rectal exam or normal saline rectal irrigations 3 to 4 times daily. No special diet is required, but preoperatively and early postoperatively, infants on a nonconstipating regimen such as breast milk are easier to manage.

Pharmacologic Management

Drug therapy is not part of standard care for the disease itself, but medications treat its complications. Give broad-spectrum antibiotics to patients with enterocolitis.

Surgical Management

Surgical choice depends on the patient's age, mental status, ability to perform ADLs, length of the aganglionic segment, degree of colonic dilation, and presence of enterocolitis. A leveling colostomy is a colostomy placed at the level of normal bowel, often as a staged procedure followed later by a pull-through. The single-stage pull-through can be done with laparoscopic, open, or transanal technique, either at diagnosis or after the newborn has had rectal irrigations at home and passed the physiologic nadir.

Nursing Management

Nursing Assessment

Gather a careful history from caregivers, especially the stooling history: onset of constipation, character and odor of stools, frequency of bowel movements, and any poor feeding, anorexia, and irritability. On exam, look for a distended abdomen and signs of poor nutrition, and record weight and vital signs.

Nursing Diagnoses

Constipation related to decreased bowel motility. Imbalanced nutrition, less than body requirements, related to anorexia. Fear (in the older child) related to impending surgery. Risk for impaired skin integrity related to colostomy irritation. Acute pain related to the surgical procedure. Deficient fluid volume related to postoperative condition. Impaired oral and nasal mucous membranes related to NPO status and NG tube irritation. Deficient caregiver knowledge related to postoperative colostomy care.

Nursing Care Planning and Goals

Maintain skin integrity, promote comfort, maintain fluid balance, keep nasal and oral membranes moist and clean, and reduce caregiver anxiety.

Nursing Interventions

For skin integrity, give careful attention to the peristomal area during routine colostomy care; record and report redness, irritation, or rash around the stoma, and prepare the skin with skin-toughening preparations that improve appliance adhesion. For comfort, watch for pain cues (crying, rising pulse and respiratory rate, restlessness, guarding, drawing up the legs), give analgesics as ordered, and add measures like repositioning, holding, stroking, cuddling, and age-appropriate activities. For fluid balance, keep accurate intake and output and report the character, amount, and consistency of stools to judge when oral feedings can resume; record and report NG drainage every 8 hours, and report any unusual drainage such as bright-red bleeding immediately. For oral and nasal care, give good mouth care at least every 4 hours and gently clean the nares to relieve NG tube irritation. For family teaching, show caregivers how to care for the colostomy at home (devices and their use, daily irrigation, skin care), and have them demonstrate competence under nursing supervision for several days before discharge.

Evaluation

Goals are met when skin integrity is maintained, behavior indicates minimal pain, fluid intake is adequate, oral and nasal mucous membranes stay intact, and caregivers demonstrate skill and knowledge in colostomy care.

Documentation

Document individual findings (contributing factors, interactions, nature of social exchanges, specifics of behavior), intake and output, signs of infection, cultural and religious beliefs and expectations, the plan of care, the teaching plan, responses to interventions and teaching, and attainment or progress toward outcomes.