Hirschsprung disease is a developmental disorder and the enteric nervous system characterized by ganglion cells are not found in the distal colon resulting in functional obstruction.
Although this disease was first described by Ruysch in 1691 and popularized by the Hirschsprung in 1886, patofisiologinya not known until the mid-20 th century, when Whitehouse and Kernohan get aganglionosis in the distal bowel obstruction as the cause of their patient case report. In 1949, Swenson explained the definitive management of Hirschsprung's is by rectosigmoidectomy with colonal anastomosis. After that note other types of surgery techniques, including techniques Duhamel and Soave. At present, there is progress on operating techniques, including minimal invasive procedures, and early diagnosis has reduced the mortality and morbidity of patients with Hirschsprung's disease.
Figure 1. Images of normal colon on the left and a dilated colon in Hirschsprung's disease on the right
Most cases of Hirschsprung's disease is now diagnosed in the neonatal period. Hirschsprung's disease should be suspected if a newborn does not remove meconium in the first 24-48 hours after birth. Although barium enema is useful for diagnosis, biopsy of the rectum remains the gold standard diagnosis enforcement. Once the diagnosis is confirmed, treatment is essential to remove the intestinal tissue to make aganglionik and anastomosis with the distal rectum connects with the proximal intestine that has a healthy innervasi.
Pathophysiology
Congenital Aganglionis the distal colon is understanding Hirschsprung's disease. Aganglionosis begins in the rectum, which is always affected, and continues to the proximal direction with various distances. Myenterik plexus (Auerbach) and submukosal plexus (Meissner) does not exist, causing reduction in intestinal peristaltic and other functions. Precise mechanism of the development of this disease is unknown.
Enteric ganglion cells derived from neuroblast cell differentiation. During normal development, neuroblast can be found in the small intestine at the age of 7 weeks gestation and will be up to the colon at 12 weeks gestation. One possibility is the etiology of Hirschsprung defects in neuroblast cell migration was in its path toward the distal colon. Neuorblas the normal migration can occur with the failure of the last neuroblas, berpoliferase, or berdifferensiasi on aganglionik distal segment. Distribution of components that are not proportional to neuronal growth and development has occurred in the intestine that aganglionik, these components are fibronektin, laminin, neural cell adhesion molecule, and neurotrophic factors.
In addition, observations of smooth muscle cells in the colon indicates that the aganglionik is not active when Electrophysiology tests, this shows myogenik abnormalities in the development Hirschspurng disease. Abnormal Cajal cells, which connect the pacemaker cells between enteric nerves and intestinal smooth muscle, also has dipostulat become important factors that contribute.
There are three neuronal plexuses of the intestine menginnervasi, submukosal plexus (Meissner), Intermuskuler (Auerbach), and the mucosal plexus. All three are integrated plexus and a role in all aspects of bowel function, including absorption, secretion, motility, and blood flow.
Normal motility mainly controlled by intrinsic neurons. These ganglia control the contraction and relaxation of smooth muscle, where relaxation dominates. Bowel function was adequate without extrinsic innervasi. Full extrinsic mainly through kolinergik and adrenergic fibers. This kolinergik fibers causes contraction, and adrenergic fibers causing inhibition.
In patients with Hirschsprung's disease, ganglion cells can not find that the intrinsic control decreases, causing an increase extrinsic neural control. Innervasi of the adrenergic system and kolinergik increased 2-3 times compared to normal innervasi. Adrenergic system expected to dominate kolinergik system, leading to increased intestinal smooth muscle tone. With the loss of intrinsic neural control, increased tone was not balanced and may cause an imbalance of smooth muscle contractility, peristaltic, uncoordinated, and eventually, obstruction fugsional
FREQUENCY
United States
Hirschsprung disease occurs in about 1 per 5400-7200 births.
International
It is not known the correct frequency for the whole world, although some international studies reported incidence of about 1 case from 1500 to 7000 births.
Mortality / Morbidity
* Approximately 20% of infants will have abnormalities involving the neurological system, cardiovascular, urological, or gastrointestinal.
* Hirschsprung's disease has been associated with the disease known below:
o Down Syndrome
o Syndrom Neurocristopathy
o Waardenburg-Shah syndrome
o Deaf-blind yemenite syndrome
o Piebaldisme
o Goldberg-Shprintzen syndrome
o Multiple endocrine neoplasia type II
o Syndrome congenital central hypoventilation
* Megacolon aganglionik not resolved in infancy will lead to increased mortality by 80%. Operative mortality in the intervention procedure is very low. Even padaUntreated aganglionic megacolon in Infancy may result in a mortality rate of as much as 80%.
* Possible complications that can occur which anastomose leakage (5%), stricture anastomose (5-10%), intestinal obstruction (5%), pelvic abscess (5), and wound infections (10%). Long-term complications including obstructive symptoms, inkontinensi, chronic constipation, and enterocolitis, complications are mostly found in patients with long segment aganglionik. Although most patients will have this problem after surgery, the long-term studies have shown bahw more than 90% of children will experience a significant improvement. Patients with long segment proved aganglionik have a worse outcome.
Ras
Hirschsprung disease has no particular race predileksi on.
Gender
Hirschsprung disease is more common in men than women, with a ratio of about 4:1. However, the long segment aganglionik often found in female patients.
Age
* Age in which patients diagnosed as having Hirschsprung's disease decreased since the last century. In early 1900, the median age of 203 years beginning in 1950 until 1970, the median usian be 206 months.
* Currently, about 90% of patients with Hirschsprung's disease can be diagnosed was the perinatal period.
Clinical
Anamnesis
* Approximately 10% of patients have a history of similar illness in the family. This situation is more frequently found in patients with a more aganglion segment length.
* Hirschsprung's disease should be suspected in children who experienced delays in issuing meconium or in children with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bile vomiting, abdominal distension, decreased appetite, and stunted growth.
* Prenatal ultrasound that showed a picture of the obstruction is rare, except in cases involving all parts of the colon.
* Children with older age usually have chronic constipation since birth. They also show evidence of weight gain poorly.
* About 10% of children who came with diarrhea caused by enterocolitis, which is thought to relate to the growth of bacteria due to stasis. This condition can progress to perforation of the colon, causing sepsis.
* In the study involving 259 patients, Menezes et al reported 57% of patients came with symptoms of intestinal obstruction, 30% with constipation, 11% with enterocolitis, and 2% with intestinal perforation.
Physical Examination
* Physical examination of the neonate usually can not make a diagnosis, only shows the existence of abdominal distension and / or spasm of the anus.
* Ani Imperforata low position with perineal hole may have a similar picture with Hirschsprung patients. A thorough physical examination can distinguish between them.
* In older children, abdominal distension caused by the inability to release flatus seldom found
Differential Diagnosis
- Constipation
- Ileus
- Iritable Bowel Syndrome
- Bowel motility disorders
Examination Support
Laboratory examination
* Blood chemistry: In most patients the findings of electrolytes and renal panel usually within normal limits. Children with diarrhea had results consistent with dehydration. This examination can help guide the management of fluid and electrolytes.
* Blood Routine: This examination is performed to determine hematocrit and platelets preoperatif.
* Profile coagulation: The tests were to ensure no blood clotting disorder that needs to be corrected before surgery.
Radiology examinations
* Foto Polos Abdomen may indicate a distended bowel loop with the air in the rectum
* Barium enema
o Do not clean the distal colon by enema before entering the contrast enema as this would blur the image on the transition zone region.
o diletakksan catheters in the anus, without mengembungkan balloon, to avoid ambiguous transition zone and at risk of perforation.
o Photos taken immediately after injection of contrast and taken again 24 hours later.
o Colon narrowing distal to the proximal part of the dilated gambara Hirschsprung disease classification. However, radiological findings in neonates is more difficult to interpret and often fail to show the transition zone.
o other radiological picture that leads to Hirschsprung's disease is the retention of the contrast more than 24 hours after a barium enema performed
Other examinations
* Manometri anorectal
o Manometri detect anorectal reflex relaxation of the lumen internalsphincter after rectal distension. Inhibitorik normal reflex is estimated not found in patients with Hirschsprung's disease.
first Swenson kai o use of this examination. In 1960, repairs will be done but is less desirable because it has many limitations. Normal physiological status and sedation is often needed is important. False positive results have been reported to reach 62% of cases, and false negatives were reported as much as 24% of cases.
o Because of these limitations and the questionable reliability, anorectal manometri rarely used in the United States
* Because cardiac malformations (2-5%) and trisomy 21 (5-15%) was also associated with congenital aganglionosis, and genetic tests recommended kardiologis
Procedure
* Rectal biopsy
o Hirschsprung definitive diagnosis is by biopsy of rectal, namely the discovery ketidakberaadan ganglion cells.
o definitive method to retrieve the network to be examined is by biopsy of full-thickness rectal
o Specimens should be taken a minimum distance of 1.5 cm above the dentata line because aganglionosis is usually found at the level
o Lack of this investigation is the possibility of hemorrhage and the formation of scar tissue and the use of public anastesia during the procedure in done.
* Simple rectal suction biopsy
o More recently, simple rectal suction biopsy technique has been used as a network to retrieve histological examination
o rectal mucosa and submucosal sucked through the engine cylinders and a special knife to cut the desired tissue.
o Benefits of this inspection is easily performed on the patient's bed.
o However, the diagnosis of Hirschsprung's disease pathological samples taken from the simple rectal suction biopsy is more difficult than in tissue taken with the technique of full-thickness biopsy
o Ease of diagnosing has been updated with the use of coloring asetilkolinesterase, which quickly coloring hypertrophy of nerve fibers along the lamina propria and muscularis propria in the network.
Histological discovery
Both myenteric plexus (Auerbach) and submucosal plexus (Meissner) not found in the muscular layer of the intestinal wall. Nerve fibers undergoing hypertrophy seen with staining asetilkolinesterase also found along the lamina propria and muscularis propria. Now there has been a calretinin immunohistochemistry examination which had been used for histological examination aganglionik intestine, and there are studies that have concluded that the investigation was likely to be more accurate in detecting asetilkolinesterase than aganglionosis.
Management
Medical treatment
The general objectives of this treatment include the 3 main things: (1) to handle the complications of Hirschsprung disease is not detected, (2) as a temporary management before definitive reconstructive surgery performed, and (3) to improve bowel function after reconstruction surgery.
* Management of complications is directed at fluid and electrolyte balance, avoiding excessive distension, and overcoming systemic complications, such as sepsis. Therefore, hydrasi intravenous, dekompressi nasogastrik, and if indicated, intravenous antibiotics have a major role in the initial medical management.
* Cleaning the colon, namely by doing rectal irrigation with large hollow tubes and fluid for irrigation.
* The liquid to prevent electrolyte imbalance.
* Irrigation routine colon and prophylaksis antibiotic therapy has become the procedure to reduce the risk of enterocolitis.
* Injection of BOTOX in the internal sphincter proved to trigger a pattern of normal bowel movements in post-operative patients.
Handling operative
Hirschsprung operative handling begins with early diagnosis, which usually requires biopsy of full-thickness rectal. In general, initial management is to create a colostomy and when the child grows and has a weight more than 10kg, definitive surgery can be done.
Management standard was developed in 1950 after reporting high rates of leakage and stricture in a single procedure described by Swenson. However, with progress anastesia a safer and more hemodinamika monitoring progress, withdrawal procedures, without a colostomy more frequently used. Contraindications for this single procedure is maximal dilatation of the proximal colon, entercolitis weight, perforation, malnutrition, and inability to determine accurately the transitional zone.
For the first time neonates treated with colostomy, originally identified and the transition zone colostomy performed on the proximal part of this area. The presence of ganglion cells in the colostomy location must be confirmed by frozen-section biopsy. Both loop or end-stoma can be done, usually depending on the surgeon's preference.
Some definitive procedure has been used, all of which have given excellent results when performed by experienced surgeons. 3 types of techniques are frequently used procedure Swenson, Duhamel, and Soave. Whatever the technique performed, colonic cleansing before definitive surgery is very important.
* Procedure Swenson
o Procedure Swenson is the first definitive technique used to treat Hirschsprung's disease
o Segments until aganglionik resectable sigmoid colon and oblique anastomosis performed between the normal colon with the distal rectum
* Procedure Duhamel
o Duhamel procedure was first introduced in 1956 as a modification of Swenson procedure
o The main point is the approach used retrorektal and some parts of the aganglionik retained rectum.
o Colon aganglionik resectable up to the rectum and rectum sewn. Proximal part of the intestine and then positioned on retrorektal space (between the rectum and the sacrum), and end-to-side anastomosis performed on the remaining rectum
* Soave Procedure
O Soave procedure was introduced in 1960, the point is to remove the mucosal and submucosal of the rectum and colon ganglionik pulled toward the end of the rectum aganglionik muscular.
o Initially, this operation does not include a formal anastomosis, depending on the formation of scar tissue between the segments drawn and intestinal aganglionik. This procedure was later modified by Boley with a primary anastomosis of the rectum.
* Myomectomy anorectal
o For children with Hirschsprung's disease with a very short segment, remove some parts of the midline posterior rectal other operating alternatives
o This procedure is 1 cm away ekstramukosal rectal wall that started around the proximal dentate line.
o The mucosa and submucosal maintained and closed.
* Laparaskopik as a management approach Hirschsprung's disease was first described in 1999 by Georgeson. Transition zone is determined laparaskopik determined initially, followed by mobilization of the rectum below the peritoneal. Transanal mucosal dissection performed, followed by removing the rectum through the anus and the anastomosis. Functional results seemed similar to the open technique based on short-term results
Diet
* Foods high in fiber and contains fresh fruit can optimize the function of post-operative bowel in some patients.
Activities
Limit physical activity for about 6 weeks for wound healing is well
Medication
The purpose of farmakoterapi to mengeradiksi infection, reduce morbidity, and reduce complications.
Antibiotics
Antimicrobial therapy must be comprehensive and cover all pathogens associated with clinical conditions. Selection of antibiotics should also be guided by blood culture tests and sensitivity.
