HIRSCH SPRUNG DISEASE

Introduction:
Also known as congenital aganglionosis or mega colon, Hirsch sprung disease is the result of an absence of ganglion cells in the rectum and, to varying degrees, upward in the colon. Hirsch sprung disease is the major cause of lower bowel obstruction in newborns (Wyllie, 2004b).

Definition Hirschsprung's (HIRSH-sproongz) disease is a condition that affects the large intestine (colon) and causes problems with passing stool. Hirschsprung's disease is present when a baby is born (congenital) and results from missing nerve cells in the muscles of part or the babys entire colon.

Etiology and incidence The disease is' a result of embryonic failure of migration of the hindgut ganglion cells to the most caudal portion of the GI tract, the rectum. The initiating factor in this failure is unknown. Hirschsprung disease occurs in I in 5000 live births, with a 4:1 male/female ratio (Wyllie, 2004b). It has a strong hereditary component and a higher incidence in children with Down syndrome.

Manifestations and Diagnostic Evaluation Delayed passage or absence of meconium stool in the neonatal period is the cardinal sign of Hirschspnmg disease. Any child who does not pass meconium within the first 24 hours and who is prone to constipation or stool infrequency in the first month after birth is suspected of having Hirschsprung disease. The neonate, infant, or older child may exhibit signs of bowel obstruction, abdominal

pain and distention, vomit,- ing, and failure to thrive, Chronic constipation beginning in the first month of life results in pelletlike or ribbon stools that are foul smelling. A rectal examination reveals a tight internal sphincter and the absence of stool, followed by an often explosive release of gas and feces related to the sudden but transient increase in rectal size. Barium enema examination demonstrates an abrupt change in the size of the colon from a distended ganglionic proximal portion to the contracted, Saw-toothed appearance in the a ganglionic distal portion, with a transitional zone of tapered bowel between them. Significantly, the child will not evacuate barium after the examination. The definitive diagnosis is made by rectal biopsy. During biopsy, a small core or punch sample that contains all layers of the bowel mucosa is removed. Absence of ganglionic cells in the sample confirms the diagnosis of Hirschsprung disease.

Therapeutic Management Treatment for mild to moderate Hirschsprung disease is based on relieving the chronic constipation with stool softeners and rectal irrigations. Treatment for moderate to severe Hirschsprung disease involves removing the aganglionic portion of the intestine in a two-step surgical intervention.

PATHOPHYSIOLOGY Ganglia provide parasympathetic innervation of the colon. In Hirschsprung disease, ganglia are absent from a variable length of colon extending proximally from the anus. Adequate peristalsis cannot occur in the affected colon, leading to a tdnic contraction of the lumen. This produces a functional bowel obstruction, chronic constipation, and the passage of ribbon like stools. It can lead to a complete bowel obstruction. Because of the constriction of the lumen, huge amounts of feces and gas collect proximal to the aganglionic portion,

resulting in a gross enlargement of this segment. The enlarged segment of colon is actually normal in its function.

In the neonatal period, performing a temporary colostomy with the most distal section of normal bowel relieves the obstruction. A complete surgical repair is delayed until the child weighs 8 to 10 kg (18 to 20 lb), at which time a pull- through procedure is performed to excise all aganglionic portions of the bowel and reanastomose the normal bowel to the anal canal. The colostomy is closed during this procedure, and normal bowel function returns shortly thereafter. If the child is older before diagnosis and surgery, the physician will most likely wait 3 or 4 months before the pull-through procedure. If diagnosis is made early enough before the bowel becomes severely dilated, a one-stage pull-through procedure, which eliminates the necessity of a temporary colostomy, may be used. In addition, some medical centers are now

performing this surgery by using minimally invasive or laparoscopic techniques that have less morbidity and shorter recovery times.

Diagnosis A physician will examine your child and obtain a medical history. Other tests may be done to evaluate whether your child has Hirschsprung's disease. These tests may include:

abdominal x-ray - a diagnostic test which may show a lack of stool in the large intestine or near the anus and dilated segments of the large and small intestine.

Barium enema - a procedure performed to examine the large intestine for abnormalities. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an xray) is given into the rectum as an enema. An x-ray of the abdomen shows strictures (narrowed areas), obstructions (blockages), and dilated intestine above the obstruction.

anorectic manometry - a test that measures nerve reflexes which are missing in Hirschsprung's disease.

biopsy of the rectum or large intestine - a test that takes a sample of the cells in the rectum or large intestine and then looks for nerve cells under a microscope.

Surgery Hirschsprung's disease is treated with surgery to bypass the part of the colon that has no nerve (ganglia) cells. The lining of the diseased part of the colon is stripped away, and normal colon is pulled through the colon from the inside and attached to the anus. This is usually done using minimally invasive (laparoscopic) methods, operating through the anus. In children who are very ill, surgery may be done in two steps.

First, the abnormal portion of the colon is removed and the top, healthy portion of the colon is connected to a small hole (ostomy) the surgeon creates in the child's abdomen. Stool then leaves the body through the ostomy into a bag that attaches to the end of the intestine that protrudes through the hole in the abdomen. This allows time for the lower part of the colon to heal. Ostomy procedures include:

Ileostomy. With an ileostomy, the doctor removes the entire colon. Stool leaves the body through the end of the small intestine.

Colostomy. With a colostomy, the doctor leaves part of the colon intact. Stool leaves the body through the end of the large intestine. Later, the doctor closes the ostomy and connects the healthy portion of the intestine to the rectum or anus. In a small percentage of children, the entire colon and sometimes a part of the small intestine lacks nerves. The usual treatment in this case is to remove the colon and connect remaining healthy bowel to the anus.

Results of surgery After surgery, most children pass stool normally although some may experience diarrhea initially. Toilet training may take longer because children have to learn how to coordinate the muscles used to pass stool. Long term, it's possible to have continued constipation, swollen belly and leaking of stool (soiling). Children continue to be at risk of developing bowel infection (enterocolitis) after surgery, especially in the first year. Be aware of signs and symptoms of enterocolitis, and call the doctor immediately if any of these occur:

Bleeding from the rectum Diarrhea Fever Swollen abdomen

Vomiting

NURSING CARE Assessment The child with Hirschsprung disease will have constipation that hasheen present since the neonatal period and frequent passage of foul-smelling ribbonlike or pelletlike stools. Nutritional status should be assessed because malnutrition can develop as a result of extreme distention or enterocolitis. Thin extremities, abdominal distention, and a history of poor feeding should be noted. If the child is acutely ill on presentation, enterocolitis must be suspected. This is a life-threatening complication and, if it is suspected, must be reported immediately. Document the assessment of bowel sounds and abdominal distention, the frequency of vomiting and diarrhea, and changes in abdominal circumference. Assess temperature by a route other than rectal. Assess family members' concerns and their methods of dealing with the problem. This disease can drain family and financial resources during the diagnosis and surgical treatment. Mild disease may not be diagnosed until the child is older. Assessing the older child's feelings about chronic constipation and its treatment is important.

Nursing Diagnoses and Planning The following nursing diagnoses and expected outcomes may be appropriate for the child with Hirschsprung disease:

Constipation related to aganglionic bowel and inadequate peristalsis.

Expected Outcome: The child will pass soft, formed stools without retention.

Risk for Deficient Fluid Volume or Excess Fluid Volume related to surgical

preparation. Expected Outcome: The child will be free from fluid or electrolyte disturbances related to bowel cleansing.Impaired Skin Integrity related to

colostomy and surgical repair. Expected Outcomes: The surgical and colostomy sites will be clean and free from exudate, redness, or drainage; the colostomy site will be intact without bleeding or skin irritation.

Risk for Infection related to surgical repair.

Expected Outcome: The child will be afebrile without signs of infection at the site.

Imbatanced Nutrition: Less Than Body Requirements related to GI surgery.

Expected Outcomes: The child will have normal bowel sounds, will pass stool, and will tolerate a regular diet.

Acute Pain related to surgical incisions.

Expected Outcomes: The child will be free from pain and will be able to participate in usual activities of daily living.

Deficient Knowledge related to incomplete information about the need for

surgery, irrigation, or care of the ostomy. Expected Outcomes: The parent will state the necessity for rectal irrigations or surgical intervention; the parent or child will assume responsibility for care of the ostomy.

Disturbed Body Image related to colostomy and irrigations.

Expected Outcome: The child and family will express feelings about irrigations, ostomy care, and the impact the condition has had on the child's body image.

Anxiety (parental and child) related to the loss of the perfect child or need

for surgery. Expected Outcomes: The parents will express fears and concerns and seek support as needed.

Interventions

Preparing the Child for Surgery The nurse closely monitors and records the child's bowel elimination pattern. Isotonic saline enemas are administered preoperatively until the return is clear. An alternative bowel-cleansing regimen is to administer a polyethylene glycol-electrolyte lavage solution (GoLYTELY) orally or through the NG tube. This regimen is used only in children older than 5 years and is given at a Image of 25 to 40 mL/kg per hour. Sodium phosphate (Fleets Phosphosoda) is another alternative requiring only approximately 200 mL at one time for children older than 5 years. After bowel cleansing, keep the child on NPO status until surgery. Provide IV fluids as needed and keep strict intake and output records. Preventing Infection and Maintaining Skin Integrity Neomycin 1.0% solution given by rectum or stoma is administered preoperatively to sterilize the bowel for surgery. Additional sterilization is provided by IV antibiotics, which also prevent infection at the surgical incision site. Monitor vital signs carefully, and measure the child's abdominal circumference with each vital sign measurement. Use tyin, panic or axillary methods for taking the temperature to avoid traumatizing the rectal mucosa. Monitor the surgical site for redness, swelling, and purulent drainage. If the child has a colostomy, monitor the stoma site for bleeding and impaired skin integrity. After a pull-through procedure, which pulls the healthy bowel to the anal opening, monitor the anal site carefully for redness, discharge, and the presence of stool. To prevent skin breakdown, provide meticulous skin care of abdominal, perineal, and ostomy sites by changing dressings and appliances as needed. Use the appropriate-size hypoallergenic ostomy supplies. Encourage the parent and child to begin ostomy care as soon as possible.

Maintaining Nutritional and Hydration Status Postoperatively, keep the child on NPO status until bowel sounds return or the child passes flatus; set the NO tube to intermittent suction until

peristalsis returns. Monitor the child for signs of dehydration and acid-base disturbances. Begin advancing the diet from clear liquids to a regular diet as ordered. To prevent dehydration, keep the child on IV fluids until the child tolerates oral fluids well.

Relieving Pain Provide pain medications on a regular basis as ordered. Most school-age children can use patient-controlled analgesia for effective pain control. The nurse should encourage the parents to institute nonpharmacologic pain control measures such as repositioning, back rubs, music, holding, rocking, massage, and quiet talking. If pain is not controlled by usual means, the child may have a bowel obstruction or infection.

Providing Education and Relieving Anxiety Before the time of scheduled surgery, the parents may need to manage rectal irrigations at home. The parents must learn the procedure and observe for distention and signs of obstruction. Encourage the parents to express any concerns they may have about the need for irrigations or their ability to perform them. Teach the parents and child about the surgery and recovery process. If the child is to have a colostomy, the child and parents may find seeing and manipulating the equipment to be helpful. Postoperatively, encourage preschoolers and young school-age children to draw pictures, use dolls, and play to express concerns about body appearance, irrigations, and the colostomy. Teach colostomy care in the immediate postoperative period, and encourage the parents to participate in the child's care as quickly as possible in the supervised setting. Promote self-care as soon as possible for the older child. Referral to an enterostomal therapist can be helpful. The nurse also can refer the family to support groups for children with ostomies. Provide parents time to share their fears, concerns, and questions. Active

listening is a critical nursing intervention. Referral to community resources may be useful.

Evaluation

Does the child pass soft, formed stools without retention after completion of the surgical correction

Has the child tolerated the bowel-cleansing regimen without signs of fluid and electrolyte imbalance, as evidenced by moist mucous membranes, good skin turgor, and an hourly urine output appropriate for age

Is

the

child

afebrile,

and

are

surgical

sites

free

from

red-

ness, purulent drainage, excess heat, and dehiscence

Is the colostomy or anal pull-through area free from bleeding and skin breakdown

Are bowel sounds active and present in all four quadrants, and is the child tolerating a developmentally appropriate diet without vomiting or diarrhea

Does the child appear to be free of pain, as evidenced by the ability to sleep comfortably and participate in appropriate play activities when awake

Can the parents and child demonstrate all procedures needed for appropriate care

Is the child able to express feelings about body changes related to treatments or procedures

Are the parents calm and able to resume all care of their Child without anxiety