Guidelines for Surgical Treatment of Hirschsprungs Disease Introduction

Hirschsprungs disease (HD), or colonic aganglionosis, was first described clinically by Harald Hirschsprung and later precisely defined by Ovar Swenson. Surgical therapy has been the cornerstone of management for the correction of colonic aganglionosis since Swenson described the first successful pull-through operation in 1948. The management of aganglionosis has evolved significantly over the past 60 years. Technical approaches different from Swensons original pull-through procedure have been developed and further modified., Surgical treatment of HD initially involved a three-stage sequence with colostomy creation, then the pull-through procedure with creation of a temporary protecting colostomy, followed by eventual colostomy closure. Many pediatric surgeons currently perform a two-stage procedure with initial colostomy and subsequent pull-through only, eliminating the need for a final colostomy closure. Primary pull-through in the newborn and those older infants and children with delay in diagnosis has been advocated by 79 some for several years. There has been a gradual accumulation of data that has suggested that pull-through can be performed selectively in the newborn as a primary procedure without a colostomy. However, concern for accurate diagnosis and the performance of such a technically demanding operation without diversion mandates expertise in proceeding with this approach. The development of minimally invasive techniques, experience, and instruments for babies has allowed the application of this approach for the management of HD in selected newborns and older 10-13 children. First reported in the mid-1990s, these minimally-invasive techniques have recently been adopted and modified by pediatric surgeons throughout the world.

Definition
Hirschsprungs disease is a rare congenital disease of the intestine, characterized by the absence of autonomic ganglion cells in the wall of the colon. It affects roughly 1 in 5000 live births. The cause is unknown. However, it is associated with genetic abnormalities anomalies, including Trisomy 21 (Down syndrome).

Diagnosis
Delay in passage of meconium, obstipation, abdominal distention, bilious vomiting, and failure to thrive may be symptoms of HD. A precise diagnosis is obtained by rectal biopsy, interpreted by an experienced pediatric (or gastrointestinal) pathologist. Contrast radiography is useful in the diagnosis and in estimating the extent of the disease in many patients, but may not be helpful in this regard in newborns. Once the diagnosis is established, treatment is aimed at preparing the patient for surgical correction.

Preoperative Management

Concomitant with measures to secure a diagnosis, the patient is decompressed with a nasogastric (or orogastric) tube and rectal irrigations. This has been felt to decrease the risk of preoperative Hirschsprungs enterocolitis. Associated anomalies are investigated. Any fluid or electrolyte imbalances should be corrected. Severe malnutrition is unusual but, if identified, should be treated. Total parenteral nutrition may be required. If successful intestinal decompression has been accomplished, primary pull through may be undertaken in some patients. Some pediatric surgeons have had success in managing patients with HD with home rectal irrigations for weeks or even months prior to definitive surgery. This has been felt, in some cases, to be preferred since it allows small babies the chance to increase in size and weight prior to surgery. If a staged approach is planned, colostomy should be performed as soon as the diagnosis is confirmed by rectal biopsy. Immediate operation should be undertaken if irrigations are ineffective. Persistent abdominal distention that cannot be decompressed is a deterrent to laparoscopic pull-through. The occurrence of definite enterocolitis preoperatively is usually considered a contraindication for primary pull-through, and a leveling colostomy should be performed. The presence of other associated anomalies may dictate a staged approach. Broad-spectrum antibiotics are given prophylactically. The choice of the operative approach depends on identifying the distal-most segment of bowel with ganglion cells. Frequently this can be suggested by contrast enema, but is typically defined by biopsy with frozen section examination accomplished in the operating room. The diagnosis of the transition zone should be secured by histologic examination before proceeding with the colostomy or definitive pull-through. A small percentage of HD patients have so-called ultra short segment HD with the transition zone close to the anus. However, approximately 75-80% of patients with HD have the transition zone in the rectosigmoid area. The remainder of cases involves longer segments of aganglionic colon, rendering 14 the pull-through more challenging and the potential outcome not as favorable. Very few cases of 15 laparoscopic pull-through for long segment disease have been reported to date.

SURGICAL TECHNIQUES
General Principles Once the transition zone is identified, standard techniques for colostomy are used for diversion in 16 cases where a two-stage procedure is performed. Definitive correction typically utilizes one of the 3 fundamental operations for pull-through. The 17 techniques of these procedures are well documented. Any can be used as a technique for primary or a staged repair using laparoscopic approach. Final frozen section biopsy of the pull-through segment prior to anastomosis is recommended. Some recent reports suggest that primary transanal pull18-20 through can be done for patients having a very low transition zone. The surgeon should be confident that the transition zone is low enough, preferably below the upper sigmoid, before beginning this type of operation. Some authors advocate a laparoscopic biopsy as the first step before beginning 12, 15 the transanal approach.

LAPAROSCOPIC OPERATIONS
A pediatric surgeon who desires to treat HD with minimally invasive surgery should meet the qualifications that allow him/her to practice pediatric surgery in his/her country and should be considered competent by peer review based on ample experience, including either residency training or formal laparoscopic course(s).

Specific training in advanced pediatric laparoscopic techniques, either in fellowship or through special postgraduate courses, is recommended. The surgeon should perform laparoscopy regularly in practice and have experience in basic laparoscopic procedures such as cholecystectomy, appendectomy and fundoplication. An experienced assistant is helpful. Georgeson et al, representing six pediatric surgical centers, summarized the effectiveness of the one 19 stage laparoscopic approach for HD utilizing a Soave technique in eighty patients . Lacking long term follow up for continence, they have observed no major morbidity and significantly shorter days of hospitalization than reported standards for the two or three stage procedures. Before embarking on primary pull-through, the transition zone should be identified with a frozen section biopsy. Discovery of long segment disease may be a deterrent to primary pull-through although not an absolute contraindication. Experience using this technique for long segment disease is described, but there are no series yet reported that have described outcomes data. The intrabdominal portion of the laparoscopic technique is not different from that of open primary pullthrough. Three ports are usually used in the upper abdomen using standard insertion techniques. A right lower quadrant port can be used for colon manipulation, especially when performing the Duhamel or Swenson procedures. Initial dissection consists of mobilizing the sigmoid colon down to and opening the peritoneal reflection. Bipolar cautery or ultrasonic dissection is optimal to minimize the risk of collateral damage. Further dissection into the pelvis can be done, as in the Swenson or Duhamel approach, but is not necessary for the Soave endorectal approach. Great care should be taken to avoid collateral structures, especially the left ureter and the vas deferens. In the Soave technique, the mucosal proctectomy is usually done from the rectum upward, not from the top down as traditionally described. It is helpful if the surgeon has experience using this technique for patients with ulcerative colitis and familial polyposis.

Summary
The implementation of laparoscopy for the primary pull-through operation has altered the management of rectosigmoid aganglionosis by allowing the surgeon to safely use an established concept (pull-through) while eliminating a major source of morbidity (staged correction and laparotomy). The distinct advantage of primary pull-through is never having a colostomy, with its consequent morbidity. There is rapid recovery and less postoperative perianal excoriation. Also, the laparoscopic technique avoids significant external and intrabdominal scarring. The critical factors in the success of this approach include the experience of the surgeon and that of the pathologist. While the long-term outcomes of this approach regarding continence and constipation are not established, preliminary data suggest, at least, similar results to the open techniques. It is becoming the preferred approach of choice over the open and staged techniques, particularly for the health

Hirschsprungs Disease
What is Hirschsprungs disease?
Hirschsprungs disease is an intestinal disorder that may cause health problems such as abdominal distension and constipation. The normal intestine (bowel) contains ganglion cells. These nerves trigger muscles in the intestine to contract (squeeze) and relax to move digested food through the intestines. This movement, called peristalsis, results in defecation (pooping).

Ganglion cells form during fetal development, between the fifth and 12th weeks of pregnancy, and are present in the entire digestive tract. Sometimes, for an unknown reason, ganglion cells fail to develop in the portion of the large intestine that descends toward the rectum. (The portion called the distal colon). This is called Hirschsprungs disease, also referred to as congenital megacolon. The large intestine is made up of three parts: ascending, transverse and sigmoid. The sigmoid portion connects to the rectum. In approximately 70 percent of cases of Hirschsprungs disease, the ganglion cells stop developing in the sigmoid portion or in the rectum. In other cases, a much longer length or the entire large intestine and rectum lack ganglion cells. Patients with Hirschsprungs disease are unable to defecate because of the lack of ganglion cells. Newborns will often have abdominal distension (an enlarged abdomen), while older children may suffer from chronic constipation. If left untreated, Hirschsprungs disease can be life threatening.

How common is Hirschsprungs disease?

Hirschsprungs disease is rare, occurring in an estimated 1 in 5,000 births. It is more common in males than in females.

What causes Hirschsprungs disease?

We do not know what causes this disease. In some cases the disease may have a genetic link and be passed down through families. About 15 percent of patients with Hirschsprungs disease have Trisomy 21 (Down syndrome).

Diagnosis
Diagnosis may include any of the following tests:

Abdominal X-ray
This shows if the intestine is dilated (abnormally large).

Contrast enema
This provides more detail on the size of the intestine and rectum. A doctor will put barium (a chalky X-ray dye that coats the intestine) or water-soluble contrast (X-ray dye) into the rectum and intestine through the anus. The doctor will take X-rays to see if the intestine is dilated and if there is an area where the size changes significantly. This procedure can be performed in the Radiology Department at CHOP. It is not painful, and no sedation is required.

Manometry
This is another way to determine if your child has Hirschsprungs disease. A doctor will place a small balloon catheter (tube) in the anus and rectum to measure pressure changes and muscle movements. If there is normal pressure and movement, the child probably does not have Hirschsprungs disease, and the doctor will not have to perform more invasive diagnostic tests such as biopsies. Manometry does not require anesthesia or sedation.

Suction rectal biopsy

This is performed to provide a more definitive diagnosis if the X-ray and contrast enema suggest Hirschsprungs disease in an infant. A surgeon will place an instrument through the anus into the rectum and take tiny pieces of the intestinal mucosa (moist tissue that lines the intestines). The tissue samples will be examined under a microscope. If ganglion cells are not present, doctors will know for sure that the child has Hirschsprungs disease. This procedure can be performed at the bedside, if your child is an inpatient, or it can be performed in the surgeons office. It is not painful, and no sedation is required.

Full-thickness biopsy
This is performed if the suction rectal biopsy results are inconclusive or if your child is older. The patient will be placed under general anesthesia and the surgeon will take a thicker piece of intestinal tissue. The tissue sample will be examined under a microscope. This can be done for diagnosis or for planning before surgical treatments, so the doctor can determine where the ganglion cells stop in the intestine.

Treatment

The Childrens Hospital of Philadelphia has a special team of doctors and nurses who will help you manage this disorder so your child can remain as healthy as possible. Treatment for this disease varies based on the childs symptoms and overall health. Initial therapies may include:

Rectal irrigation
This is used to help your child defecate. A soft catheter (tube) is inserted through the anus into the rectum and the doctor flushes the rectum and intestine with saline solution in order to remove stool. This can be performed at the bedside. This may be used until surgery is performed and sometimes as a treatment afterward.

Leveling ostomy
Depending on the overall health of your child, a surgeon may decide he needs a stoma (a surgically created opening in the bowel, also called an ostomy). The surgeon creates a small hole in the abdomen and brings a small portion of the intestine up to the level of the skin. This allows stool to come out easily into a small bag. Types of ostomies include colostomies and ileostomies. We will explain the difference and will train you in ostomy care. For most children, the ostomy will be temporary. After several months, your surgeon will close the ostomy. (Closure requires general anesthesia.)

Pull-through procedure
A surgeon removes the abnormal section of the intestine and connects the remaining intestine to the anus just above the sphincter. After this procedure, some patients still experience problems with bowel function. Sometimes patients have an ostomy at the same time as a pull-through procedure. In other cases, the pull-through procedure is performed without an ostomy; this is often referred to as a primary pull-through.

After surgery
After the pull-through procedure, your child will be able to go home when he or she is eating well, is passing stool and has no fever. Initially, your child will poop frequently. It is important to protect her skin with barrier creams. We will train you in this care. A small number of patients develop a leak, abscess or infection at the suture line (inside the anus). If your child develops fever, abdominal distension (enlarged abdomen) or decreased stool output (is not pooping very much) we need to hear from you right away. Please call us at 215-590-2730.

Potential long-term health problems

After a pull-through procedure or ostomy closure procedure, children with Hirschsprungs disease may continue to have some problems, which can include any of the following: Constipation A high-fiber diet and fiber supplements can help prevent or minimize constipation. Bowel obstruction This occurs when there is a blockage in the intestine. This may be due to a large amount of stool in the intestine, or it may be due to scar tissue after surgery. Signs and symptoms of a bowel obstruction include vomiting, pain and abdominal distension. Your child needs to be treated quickly if these symptoms occur. Severe diaper rash After the pull-through procedure and colostomy closure (if performed), your child will experience frequent pooping resulting in many diaper changes. This can lead to significant diaper rash. The team will review with you techniques and products to help. Stenosis This is a narrowing at the suture line (inside the anus) that can occur after a pull-through procedure. As the scar contracts, it may become too tight making it difficult to pass stool. An additional surgical procedure may be required to stretch the scar.

Continuing care
Your child will follow up with his surgeon. The Pediatric Anorectal Continence Evaluation (PACE) Program is available for long-term bowel management. Appointments are at the Richard D. Wood Pediatric Ambulatory Care Building (attached to the Main Hospital). Your initial appointment following surgery will occur about two weeks after discharge and then monthly as directed by your surgeon.

When to call us immediately

Children with Hirschsprungs disease are at risk for a serious condition called Hirschsprungs enterocolitis. Enterocolitis is an inflammation in the lining of the intestinal wall. If left untreated, it can be life threatening. Enterocolitis can occur in children with ostomies, as well as children who have had a pull-through procedure. It must be treated immediately. If your child has any of the following symptoms, call us right away at 215-590-2730 or take your child to an

emergency room: explosive diarrhea; unusually foul-smelling diarrhea; gray or pale-colored stool (poop); vomiting; abdominal distension (swollen stomach area); fever (with any of the other symptoms listed above); or lethargy (unusual sleepiness).

Diet
A special diet is not required. However, preoperatively and in the early postoperative period, infants on a nonconstipated regimen, such as breast milk, are more easily managed.