Hirschsprung's Disease / Congenital megacolon

INTRODUCTION

Hirschsprung disease is a congenital disorder of intestinal aganglionosis, ranging from the internal anal sphincter in the direction of the length of the proximal segment, ^1,2,3 but always including the anus and rectum, at least in part. ³ The disorder is known as congenital aganglionesis ,aganglionic megacolon , or Hirschsprung's disease . ^1,2,3,4

Figure 1. Illustration megacolon

Pathophysiology

Hirschsprung disease is a congenital disease. Existing abnormalities in patients with Hirschsprung's disease is the absence of intrinsic ganglion or nervous colon aganglionosis start of the internal anal sphincter proximal direction with the length of certain segments. ^1,2,3 At most, ie 80% of these circumstances occurred in segment aganglionosis rektosigmoid. ³ addition aganglionosis, other abnormalities found in patients with colonic Hirschsprung disease is hypertrophy of the external intestinal innervation mainly cholinergic nerves. ³

The absence of mienterikus plexus (Auerbach) and submucosal plexus (Meissner) cause a reduction in bowel function and peristalsis. Intestinal ganglion cells develop from neural crest. On normal development, neuroblast can be found in the small intestine at 7 weeks of gestation and reaches the colon at 12 weeks' gestation. One theory about the underlying etiology of Hirschsprung disease this is a defect in neuroblast migration to the intestine leading to formation of the distal aganglionic segment. Another theory states that normal migration can occur, but there is a failure of nueroblast to survive, proliferate or grow in that segment. This theory can be caused by a lack of dieperlukan components for growth and development of neuronal cells such as fibronectin, laminin, neural cell adhesion molecule (NCAM), and neurotrophic factors. ²

There are two mensyarafi intestinal plexus, the submucosal plexus (Meissner), intermuskular plexus (Auerbach) plexus and the mucosa of the small. Third plexus are integrated and involved in various aspects of bowel function including absorption, secretion, motility and blood flow. ²

Normal motility is mainly controlled by intrinsic neurons. As an intrinsic ganglion neurons controls the contraction and relaxation of smooth muscle. Extrinsic control mainly through cholinergic and adrenergic persyarafan. Cholinergic and adrenergic receptors causes the contraction caused inhibition. In patients with Hirschsprung, no ganglion cells, causing increased extrinsic innervation.Innervation of cholinergic and adrenergic system increases up to 2-3 times the normal innervation.Adrenergic more dominating than the cholinergic, leading to increased smooth muscle tone. With the loss of the intrinsic innervation and increased smooth muscle tone is not inhibited muscle contractions cause unbalanced, uncoordinated peristalsis, and functional obstruction.

Picture 2 . Microscopic picture of the segment aganglionosis in Hirschsprung disease.

Epidemiology

The incidence of Hirschsprung disease is approximately 1 in 4400 to 7000 live births. Average of 1: 5000 ^1,2,3, . Mentioned in the literature over many men, with a 4:1 male female ratio; ^1,2,3 in Jakarta this ratio is 3:1. Un long segment Hirschsprung disease tuk ratio of male / female was 1:1.There is no racial distribution for this disease. The disease is rare on infants with a history of prematurity.

Risk Factors

Factors that may increase the risks of Hirschsprung disease is a family history of disease, more often in men than women and may be associated with other congenital diseases. ^1.2

Mortalitalitas / Morbidity

·          Hirschsprung disease tend to have higher was found with several diseases including:²

·                                             Down syndrome

·                                             Neurocristopathy syndromes

·                                             Waardenburg-Shah syndrome

·                                             Yemenite Deaf-blind syndrome

·                                             Piebaldism

·                                             Goldberg-Shprintzen syndrome

·                                             Multiple endocrine neoplasia type II

·                                             Congenital central hypoventilation syndrome.

·                     Enterocolitis complications that can lead to sepsis increases morbidity and mortality.

·                     Child mortality by 80%. Mortality from surgery is much lower compared with those not operated on. ²

·                     Possible complications of surgery is anastomotic leak (5%), anastomotic stricture (5-10%), intestinal obstruction (5%), pelvic abscess (5%), and surgical wound infections (10%). Long-term complications of the obstructive symptoms, incontinence, chronic constipation, enterocolitis, and death, especially in cases with a long aganglionic segment. Although many patients with postoperative complications, but studies show that 90% showed significant improvement and show good results.Syndrome patients and patients with long segment Hirschsprung disease showed a poorer outcome. ²

Clinical symptoms of

Clinical symptoms are typical of Hirschsprung disease in neonates at term of a delay in meconium more than 48 hours, ¹ constipation, abdominal distension, vomiting green, poor feeding, such as signs of high intestinal obstruction or distal ileum. ⁴ In 99% of term infants meconium out in the first 48 hours. Hirschsprung disease should be suspected in any patient enough spending months delayed meconium. ¹ Although in some infants may issue meconium normally, but will eventually will progress to chronic constipation. Normal meconium greenish black, slightly sticky, and in sufficient quantities. Other symptoms in the neonate such as constipation followed by diarrhea that is often over-terindifikasikan as enterocolitis, abdominal straining, and failure of development. ^1.4

Abdominal distention is another important symptom. Abdominal distention is a manifestation of low intestinal obstruction and the location can be caused by other disorders. ^first signs of edema, reddish blotches especially around the umbilicus, back and around the genitalia was found when there is a complication of peritonitis. Picture of the abdomen is similar to the image of the abdomen in other diseases such as neonatal necrotizing enterocolitis, ileal atresia complicated by perforation, intrauterine peritonitis, etc.. ³

Green vomiting often occurs in Hirschsprung disease. Because it is caused by intestinal obstruction, which can occur also in the passage of intestinal disorders, such as ileal atresia, neonatal necrotizing enterocolitis, or intrauterine peritonitis. Hirschsprung disease with complications of enterocolitis with diarrhea, abdominal distension featuring a mix of liquid stools and foul-smelling mucus, with or without blood and generally brownish color. ³

On physical examination is often visible absence of abdominal distension. Assessment of the position of the anus in the perineum is very important. There are imperforate anus at the bottom in an open state that can directly replace the anterior part of this can also cause constipation. On examination the patient's rectum anus Hirschsprung shows that rigid and may lead to misdiagnosis of being perceived as anal stenosis. ⁴

Diagnosis

Diagnosis of Hirschsprung disease is essential and must be enforced as early as possible.Hirschsprung's disease must be recognized in every child with a history of constipation after the birth. Delay in diagnosis can lead to various complications such as enterocolitis, intestinal perforation, and sepsis, which is the commonest cause of death. ³ A variety of technologies available to diagnose Hirschsprung's disease. However, by performing a careful history, thorough physical examination, radigrafik examination, and examination of rectal suction biopsy of anatomic pathology, the diagnosis of Hirschsprung's disease in some cases can be enforced. ^3.4

Anamnesis

In the anamnesis (alloanamnesis) obtained a history of meconium delay spending. Meconium in the normal state of greenish-black, slightly sticky, and in sufficient quantities. Other clinical manifestations are typical of Hirschsprung's disease are abdominal distension and vomiting green or faecal. Abdominal distention is a manifestation of the location of low intestinal obstruction may be caused by other disorders, such as ileal atresia, and others. Green vomit in Hirschsprung's disease, caused by intestinal obstruction. Hirschsprung disease with complications of enterocolitis showing abdominal distension with diarrhea in the form of liquid stool mixed with mucus and fetid, with or without blood and generally brownish or tengguli. ³In 10 percent of patients had a family history of similar illness. ^1,2,3 On pediatric patients who are older there were complaints of chronic constipation since birth and showed less weight gain.

Physical examination

On physical examination a bulging abdomen obtained abdomen, bloating, and bowel movements appear. If there is a complication of peritonitis would have found signs of edema and reddish spots, particularly around the umbilicus, back, and around the genitalia. ¹

Radiological examination

For early detection of Hirschsprung disease in neonates performed by plain abdominal examination and barium enema examination in particular. ⁵

Plain photo abdomen

Hirschsprung disease in neonates tended featuring low layout picture of intestinal obstruction.Pelvic area looks empty without air. Although rarely seen free air intrapritonial who initiated the sign of proximal bowel perforation due to Hirschsprung disease. Low lies the picture of intestinal obstruction such as ileal atresia, meconium obstruction syndrome, or sepsis. ⁵

Plain abdomen to rule out other diagnoses such as intrauterine peritonitis or gastric perforation.On a plain photo abdomen neonates, intestinal distension and bowel distension is difficult to distinguish. In patients with infant and child picture of colonic distension and faecal mass can be seen more clearly. ³

 

Picture 3 . Plain photo abdomen in Hirschsprung disease .

Barium Enema Photos

Barium enema examination should be done in neonates with meconium delay accompanied by abdominal distension and vomiting green, though with a digital rectal examination of symptoms and signs of intestinal obstruction have been eased or disappeared. Contrast barium enema containing water-soluble liquid, which is highly accurate for diagnosing Hirschsprung's disease. ⁴

Classic radiographic signs typical for Hirschsprung's disease are: ³

A.       a narrow segment of the anal sphincter with a certain length.

Second.       transition zone, the change from a narrow segment of the dilated segment.

3.       segment dilated.

There are three types of picture of the transition zone is found on barium enema images: ³

A.       Abrupt, sudden changes

2.       Cone, like a funnel or cone shape

3.       Funnel, a shape like a chimney

In addition to the signs as above, can also be seen images of irregular mucosal surface that shows the process of enterocolitis. Can also be seen transverse fold lines (transverse fold), especially when a solution of barium fills the colon lumen dilatation is to be empty. ³ In the case of aganglionosis of the entire colon, often appear normal colonic caliber. ^3.4

Picture 4 . Photos of barium enema in Hirschsprung disease.

Barium retention Photo

Barium retention can occur 24 to 48 hours is a sign of neonatal Hirschsprung's disease in particular. Picture of barium seem to blend into the stool toward the proximal colon in normal berganglion. Barium retention in patients with chronic obstruction caused by Hirschsprung's disease is not seen more distal, rectum and sigmoid area clumping. Photo retention of barium carried out if the photo or a barium enema at the post-evacuation barium made ​​no visible signs typical of Hirschsprung disease. ³

Examination of Anatomic Pathology

Rectal biopsy is the gold standard for diagnosis of Hirschsprung disease. ^1.4 Swenson in 1955 with excision of the entire thick muscular wall of the rectum, so the submucosal plexus mienterik and parts can be examined. ^3.4 There is a ganglion in her biopsy specimen rule out the diagnosis of Hirschsprung's disease and vice versa.

Rectal biopsy Sip

Suction biopsy of the mucosa and submucosa rectum or the appropriate use of Rubin Noblett can be done more simply, safely, and performed without general anesthesia. ³ biopsy specimens in paraffin and performed pieces of the series and eosin staining hematoksillin. diagnosis is made ​​if not found Meissner ganglion cells and thickening of the fibers found nerve. Junis et al reported 100% accuracy of this examination. ³ Smith argues, the neonates rectal plexus innervation is still immature and less developed than Meissener plexus Auerbach plexus; discovery of immature ganglion cells in the plexus Meissner rule out the diagnosis of Hirschsprung's disease is defined. ³Andrassy et al recommended the examination with biopsy rectal suction for all issued late neonatal meconium more than 24 hours to establish the diagnosis of Hirschsprung. ⁵ suction rectal biopsy is the first diagnostic option and should be done not less than 2 cm from dentata line. ¹

Histochemical staining techniques Asetilkolinesterase

In patients with Hirschsprung asetilkolinesterase there is an increase of activity in nerve fibers in the lamina propria and muscularis mucosa. ^3.4 Staining for asetilkolinesterase great help find the ganglion cell layer of the submucosa or muscularis, especially in the segment of bowel with hipoganglionosis, also in determining the normal berganglion segment at the time of surgery . ³

Immunohistochemistry examination

Histochemical staining of frozen asetilkolinesterase the dosage was cut to help the diagnosis.Immunohistochemical staining of biopsy tissue paraffin piece suction neuron-specific enolase rectum against S100 protein and peroksidaseantiperoksidase techniques facilitate diagnosis. ³neuron-specific enolase staining, immature ganglion cells and hypertrophic nerve fibers that are more visible. Staining for S100 protein showed ganglion cells of the area which is surrounded by negative staining cytoplasm and nuclei of cells Schwan. ³ In general, how imunoperoksidase facilitate the identification of immature ganglion cells in neonates. ³

The entire biopsy Rectal Wall Thickness

Entire wall thickness rectal biopsy contains two muscular layers, the muscular layer of circular and longitudinal muscular layers. Although the results have high accuracy, but the procedure is considered relatively more difficult than the suction biopsy, in addition to the possibility of post-biopsy complications fibrosis that will further complicate the definitive surgery. ³ whole wall thickness rectal biopsy can be performed during surgery to confirm the diagnosis and the length of the segment involved . ¹

Elektromanometri

Anorectal Elektromanometri the measurements made ​​by inserting a small balloon with different depths in the rectum and colon. Contraction that occurred in the aganglionic segment has nothing to do with the contraction in the proximal colon of normal berganglion. ^3.4

Manometry studies in Hirschsprung disease give the following results: ³

A.       In this segment there is hiperaktivasi dilatation with a normal propulsive activity.

2.       In the aganglionic segment does not have a coordinated peristaltic waves. Normal motility was replaced by uncoordinated contraction of the intensity and period of time is different. ³

3.       reflex inhibition between the rectum and internal anal sphincter does not develop. Reflex relaxation of the internal anal sphincter after distension of the rectum does not occur, there is even a spastic contraction. Relaxation never occur spontaneously. ³

Hirschsprung disease generally can be enforced based on pain history, clinical examination and radiological examination. When the diagnosis is doubtful, as long as the patient allows observation and radiological re-examination 1-2 months later. ^3.4

Management

Hirschsprung disease is basically healing can only be achieved with surgery, removal of intestinal segments aganglion, followed by the return of bowel continuity. ^1,2,3 Medical therapy is only done in preparation for surgery. Surgical procedures on the disease can be surgical hirscshsprung temporary and definitive surgery. ³

Medical Therapy

The purpose of medical therapy in patients are:

1.                  Treating complications of Hirschsprung disease is unknown and untreated. The management of complications such as bowel distension preventing excessive fluid and electrolyte disorders, and complications such as sepsis using intravenous, using NGT decompression, and prescribe antibiotics if indicated. Lavase colon, namely mechanical irrigation using a rectal tube is great and a lot of fluid volume, may be required. ¹

2.                  Manage to do surgery

3.                  The management of bowel function after reconstructive surgery.

While the act of Surgery

Decompression with colostomy creation action in the colon of the most distal normal berganglion the surgery first thing to do. This action eliminates intestinal obstruction and prevent enterocolitis, known as the leading cause of death. Please note enterocolitis that occurred before decompression action tends to recur after definitive surgery. Colostomy when decompression was not done in medical work and planned definitive surgery immediately. Colostomy is done in: ³

·          Patients Neonates

Definitive surgery without a colostomy immediately raises a lot of complications and death (achieving 28.6% and 1.7% in infants). Death occurs because of anastomotic leak and abscess in the pelvic cavity. ³

·          Child and Adult Patients are diagnosed too late

In these patients usually have very terdilatasi colon so that the dilated colon with a colostomy will shrink back after 3-6 months post-surgery so that the anastomosis is more easily done and the results better. ³

·          Patients with E nterokolitis weight and K eadaan U mum of B Uruk

This measure is intended to prevent post-surgical complications. ³

Definitive Surgical action

There are several ways of surgery that can be used for definitive surgical techniques such asSwenson, Duhamel, and Soave Operation. ³

Swenson

On how this is done rektosigmoidektomi with anal sphincter preservation. Anastomosis is performed directly outside the peritoneal cavity. Pungtum left rectum 2-3 cm from the mucocutaneous line. Postoperative complications such as anastomotic leakage, stenosis, inkotinensi, enterocolitis, etc.. At Swenson , enterocolitis could be due to spasm of the left pungtum rectum ( anal sphincter tightness ). To reduce these circumstances, the Swenson did sfingterektomi partial posterior. Namely pungtum rectum 2 cm in the left anterior and 0.5 cm in the posterior. Until recently, many surgeons performing these sfingterektomi.

Surgical technique performed with the colon resection begins with cutting the arteries and veins and hemorhoidalis sigmoidalis superior. Sigmoid segment was released a few centimeters from the bottom of the peritoneum to 12 cm proximal colostomy. Pungtum rektosigmoid freed from surrounding tissue in the cavity to be tiprolapskan pelcis through the anus. Liberation of proximal colon was to allow the colon to the perineum can be drawn through the anus without tension.

3 things to note in the proximal colon surgery are:

·          Preparation of vascularization of the colon mendarahi

·          Exemption retroperitoneal attachment of mesocolon to the wall

·          Exemption omentum

Pungtum diprolapskan rectum with pull clamps are mounted in the lumen. Cutting is done by the obliquity rectum, 2 cm in the anterior and posterior parts of 0.5 at. Furthermore in perineum proximal colon is pulled through the rectum pungtum which has been opened. Anastomosis performed with a two-layer suture using silk or vicryl. After the anastomosis is completed, the rectum is inserted back into the pelvic cavity. Reperitonealisasi done with attention to the vascularization of the colon that is not sewn. Closure of the abdominal wall after washing the peritoneal cavity. And pipe small rectal catheter is maintained for 2-3 days.

Picture 5. O techniques cooperative Swenson

Duhamel

Berganglion normal colon is pulled through the proximal retrorektal Transanal and performed end-to-side colorectal anastomosis. Then pulled through the proximal colon retrorektal Transanal and performed end-to-side colorectal anastomosis. At prosedut Duhamel proximal colon anastomosis performed on the internal anal sphincter, it is considered not good for frequent stenosis, incontinence, and the formation of fekaloma the rectum pungtum left too long. So to the present method of Duhamel has been heavily modified to get better results.

Surgical technique performed with resection of the sigmoid segment treated as Swenson .Pungtum rectum is cut about 2-3 cm above the perineum and the base is closed with stitches using two layers of silk or vicryl. Rektorektal open space so that the entire surface of the posterior wall free. Endoanal semicircular incision made ​​in the wall of the rectum at a distance posterir 0.5 cm from the dentate line. Further proximal colon is pulled through the incision endoanal retrorektal out the anus. Mesocolon is placed in the posterior.

Colorectal anastomosis is performed to form a new rectum by removing the septum (the wall of the rectum posterior and anterior wall of the proximal colon)

Figure 6. Techniques  O cooperative Duhamel

Soave

Mucosal lining of the disposal made of layers seromuskular rektosigmoid. Subsequent withdrawal anus colon berganglion out through the sheath seromuskular rektosigmoid. This procedure is referred to as the procedures endorektal pull through. After 21 days, the remaining colon is diprolapskan cut.

Figure 7. Soave operation technique

Diagnoses

In patients with an already large age should be distinguished from other causes of abdominal distension and chronic constipation, functional constipation example. Can be seen in the table below. ¹

	Functional constipation (acquired)	Hirschsprung
Anamnesis
Onset of constipation	> 2 years of age	At birth
Encopresis	Often	Very rarely
Failure to Thrive	-	possible
Enterocolitis	-	possible
Imposed toilet training	often	-
Physical examination
Abdominal distension	Not often found	Often found
Less weight gain	Rarely	Often found
Anal tone	normal	normal
Rectal examination	Stool in the ampulla	Ampulla is empty
malnutrition	-	possible
Investigations
Anorectal manometry	Distention of the rectum causes the ani muscle relaxation sphingter eksternum	No relaxation sphingter
Rectum biopsy	normal	No ganglion cells, and staining asetilkolinesterase
Barium enema	Amount of fecal matter a lot, there is no transition zone.	Transition zones, and evacuation of barium enema terla 24 hours

Complications After Surgery

Predisposing factors of postoperative complications include:

·          Age of patients when surgery is definitive, the young age of patient complications often encountered more frequently

·          The condition of patients pre-surgery, the general state of poor pre-surgical (eg, enterocolitis) tend to cause complications after surgery

·          Surgical procedures are used

·          Skills surgeon

·          Treatment of postoperative

Postoperative complications, such as:

·          Leakage of anastomosis

·          Stenosis

·          Enterokolitits

·          Impaired anal sphincter function after surgery

·          neuronal intestinal dysplasia

1)       R. Wylie Motility disoders and hirshsprung disease. In: Kliegman RM, Jenson HB, Berhman RE, Stanton BF, editors. Nelson textbook of pediatrics. 18 ^th edition.Philadelphia: Saunders Elsivier; 2007.p. 1565-1567

2)       Lee SL, Shekherdimian S, DuBois. Hirschsprung disease. Cited from:www.emedicine.medscape.com . 26 February 2009.

3)       Kartono D. Hirschsprung disease. New York: Sagung Seto; 2004. H.1-62

4)       DH Teitelbaum and AG Coran. Hirschsprung's Disease and Related Neuromuscular Disorders of the Intestine. In: Grosfeld JL, O'Neill JA, Fonkalsrud EW, Coran AG.Pediatric Surgery, 6 ^th ed. Philadelphia: Mosby Elsevier; 2006.p.1515-1519.

5)       Andrassy RJ, Isaacs H, Weitzman JJ. Rectal suction biopsy for the diagnosis of Hirschsprung's disease. Cited from: http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=13450

 6)   Images downloaded from the Swenson operation means http://www.cmj.org/periodical/images/200812/2008121011954128.jpg