CHAPTER I INTRODUCTION

Congenital anomalies and preterm birth are important causes of childhood death, chronic illness, and disability in many countries. In 2010 the World Health Assembly adopted a resolution calling all Member States to promote primary prevention and the health of children with congenital anomalies by: developing and strengthening registration and surveillance systems developing expertise and building capacity strengthening research and studies on aetiology, diagnosis and prevention promoting international cooperation.

Causes of 3.1 million neonatal deaths in 193 countries in 2010

Source: Adapted from WHO. Born too soon. The global action report on preterm birth. Geneva, World Health Organization, 2012

Definition
Congenital anomalies are also known as birth defects, congenital disorders or congenital malformations. Congenital anomalies can be defined as structural or functional anomalies, including metabolic disorders, which are present at the time of birth.

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Causes and risk factors

Approximately 50% of all congenital anomalies, however, cannot be assigned to a specific cause. However some causes or risk factors have been associated to congenital anomalies. 1. Socioeconomic factors Although it may be an indirect determinant, congenital anomalies are more frequent among resource constrained families and countries. It is estimated that about 94% of serious birth defects occur in middle- and low-income countries, where mothers are more susceptible to macronutrient and micronutrient malnutrition and may have increased exposure to any agent or factor that induces or increases the incidence of abnormal prenatal development, particularly infection and alcohol. Advanced maternal age also increases the risk of some chromosomal abnormalities including Down syndrome. 2. Genetic factors Consanguinity (relationship by blood) increases the prevalence of rare genetic congenital anomalies and nearly doubles the risk for neonatal and childhood death, intellectual disability and serious birth anomalies in first cousin unions. Some ethnic communities, e.g. Ashkenazi Jews or Finns, have comparatively high prevalence of rare genetic mutations, leading to a higher risk of congenital anomalies. 3. Infections Maternal infections such as syphilis and rubella are a significant cause of birth defects in low- and middle-income countries. 4. Maternal nutritional status Iodine deficiency, folate insufficiency, overweight, or conditions like diabetes mellitus are linked to some congenital anomalies. For example folate insufficiency increases the risk of having a baby with neural tube defects. 5. Environmental factors Maternal exposure to pesticides, medicinal and recreational drugs, alcohol, tobacco, certain chemicals, high doses of vitamin A during the early pregnancy, and high doses of radiation increase the risk of having a baby with congenital anomalies. Working or living near or in waste sites, smelters, or mines may also be a risk factor.

Prevention
Preventive public health measures administered through pre- and peri-conception and prenatal health care services decrease the frequency of certain congenital anomalies. Primary prevention of congenital anomalies involves:
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1. Improving the diet of women throughout their reproductive years, ensuring an adequate dietary intake of vitamins and minerals such as folic acid and iodine, and restricting harmful substances, particularly the abuse of alcohol. Controlling pre-conceptional and gestational diabetes through counselling, weight management, diet and the administration of insulin when needed. 2. Avoiding exposure to hazardous environmental substances (e.g. heavy metals, pesticides, some medicinal drugs) during pregnancy. 3. Improving vaccination coverage, especially with rubella virus, for children and women. This can be prevented through childhood vaccination. The rubella vaccine can also be given at least 1 month prior to pregnancy to women who are not already immune. 4. Increasing and strengthening education to health staff and others interested in promoting birth defects prevention.

Detection
Pre- and peri-conceptional care includes basic reproductive health practices as well as medical genetic screening. Screening can be conducted during the following three periods: Preconception screening is used to identify persons at risk for specific disorders or at risk for passing one on to their children. The strategy includes the use of family histories and carrier screening, and is particularly valuable in countries where consanguineous marriage is common. Antenatal screening includes screening for advanced maternal age, Rhesus blood group incompatibility, and carrier screening. Ultrasound can be used to detect Down syndrome during the first trimester and serious fetal anomalies during the second trimester; maternal serum screening can also be used for detection of Down syndrome and neural tube defects during the first and second trimesters. Newborn screening includes clinical examination and screening for haematological, metabolic, and hormonal disorders. Screening for deafness and heart defects as well as early detection of birth defects can facilitate life-saving treatments and prevent the progression towards some physical, intellectual, visual or auditory disabilities.

Treatment and care

In countries with well-established health services, structural birth defects can be corrected with paediatric surgery and early treatment can be administered to children with functional problems such as thalassaemia (inherited recessive blood disorders), sickle cell disorders and congenital hypothyroidism.

CHAPTER II
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CONTENT
2.1 HIRCHSPRUNG DISEASE
Background Hirschsprung disease is a developmental disorder of the enteric nervous system and is characterized by an absence of ganglion cells in the distal colon resulting in a functional obstruction.

Hirschsprung disease. Contrast enema demonstrating transition zone in the rectosigmoid region. Although this condition was described by Ruysch in 1691 and popularized by Hirschsprung in 1886, the pathophysiology was not clearly determined until the middle of the 20th century, when Whitehouse and Kernohan described the aganglionosis of the distal intestine as the cause of obstruction in their series of patients. In 1949, Swenson described the first consistent definitive procedure for Hirschsprung disease, rectosigmoidectomy with coloanal anastomosis. Since then, other operations have been described, including the Duhamel and Soave techniques. More recently, advances in surgical technique, including minimally invasive procedures, and earlier diagnosis have resulted in decreased morbidity and mortality for patients with Hirschsprung disease. Most cases of Hirschsprung disease are now diagnosed in the newborn period. Hirschsprung disease should be considered in any newborn who fails to pass meconium within 24-48 hours after birth. Although contrast enema is useful in establishing the diagnosis, full-thickness rectal biopsy remains the criterion standard. Once the diagnosis is confirmed, the basic treatment is to remove the poorly functioning aganglionic bowel and to create an anastomosis to the distal rectum with the healthy innervated bowel (with or without an initial diversion). Pathophysiology Congenital aganglionosis of the distal bowel defines Hirschsprung disease. Aganglionosis begins with the anus, which is always involved, and continues proximally for a variable distance. Both the myenteric (Auerbach) plexus and the
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submucosal (Meissner) plexus are absent, resulting in reduced bowel peristalsis and function. The precise mechanism underlying the development of Hirschsprung disease is unknown. Enteric ganglion cells are derived from the neural crest. During normal development, neuroblasts will be found in the small intestine by the 7th week of gestation and will reach the colon by the 12th week of gestation. One possible etiology for Hirschsprung disease is a defect in the migration of these neuroblasts down their path to the distal intestine. Alternatively, normal migration may occur with a failure of neuroblasts to survive, proliferate, or differentiate in the distal aganglionic segment. Abnormal distribution in affected intestine of components required for neuronal growth and development, such as fibronectin, laminin, neural cell adhesion molecule (NCAM), and neurotrophic factors, may be responsible for this theory. Additionally, the observation that the smooth muscle cells of aganglionic colon are electrically inactive when undergoing electrophysiologic studies also points to a myogenic component in the development of Hirschsprung disease. Finally, abnormalities in the interstitial cells of Cajal, pacemaker cells connecting enteric nerves and intestinal smooth muscle, have also been postulated as an important contributing factor. Three neuronal plexus innervate the intestine: the submucosal (ie, Meissner) plexus, the intermuscular (ie, Auerbach) plexus, and the smaller mucosal plexus. All of these plexus are finely integrated and involved in all aspects of bowel function, including absorption, secretion, motility, and blood flow. Normal motility is primarily under the control of intrinsic neurons. Bowel function is adequate, despite a loss of extrinsic innervation. These ganglia control both contraction and relaxation of smooth muscle, with relaxation predominating. Extrinsic control is mainly through the cholinergic and adrenergic fibers. The cholinergic fibers cause contraction, and the adrenergic fibers mainly cause inhibition. In patients with Hirschsprung disease, ganglion cells are absent, leading to a marked increase in extrinsic intestinal innervation. The innervation of both the cholinergic system and the adrenergic system is 2-3 times that of normal innervation. The adrenergic (excitatory) system is thought to predominate over the cholinergic (inhibitory) system, leading to an increase in smooth muscle tone. With the loss of the intrinsic enteric inhibitory nerves, the increased tone is unopposed and leads to an imbalance of smooth muscle contractility, uncoordinated peristalsis, and a functional obstruction

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Epidemiology Frequency Hirschsprung disease occurs at an approximate rate of 1 case per 5400-7200 newborns. Mortality/Morbidity Approximately 20% of infants will have one or more associated abnormality involving the neurological, cardiovascular, urological, or gastrointestinal system. Hirschsprung disease has been found to be associated with the following: Down syndrome Neurocristopathy syndromes Waardenburg-Shah syndrome Yemenite deaf-blind syndrome Piebaldism Goldberg-Shprintzen syndrome Multiple endocrine neoplasia type II Congenital central hypoventilation syndrome Untreated aganglionic megacolon in infancy may result in a mortality rate of as much as 80%. Operative mortality rates for any of the interventional procedures are very low. Even in cases of treated Hirschsprung disease, the mortality rate may be as high as 30% as a result of enterocolitis. Possible complications of surgery include anastomotic leak (5%), anastomotic stricture (5-10%), intestinal obstruction (5%), pelvic abscess (5%), and wound infection (10%). Long-term complications include ongoing obstructive symptoms, incontinence, chronic constipation, enterocolitis, and late mortality, mostly affecting patients with longsegment disease. Although many patients will encounter one or more of these problems postoperatively, long-term follow-up studies have shown that greater than 90% of most children experience significant improvement and will do relatively well. Patients with an associated syndrome and those with long-segment disease have been found to have poorer outcomes. Race
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Hirschsprung disease has no racial predilection. Sex Hirschsprung disease occurs more often in males than in females, with a male-to-female ratio of approximately 4:1. However, with long-segment disease, the incidence increases in females. Age Hirschsprung disease is uncommon in premature infants. The age at which Hirschsprung disease is diagnosed has progressively decreased over the past century. In the early 1900s, the median age at diagnosis was 2-3 years; from the 1950s to 1970s, the median age was 2-6 months. Currently, approximately 90% of patients with Hirschsprung disease are diagnosed in the newborn period History Approximately 10% of patients have a positive family history. This is more common in patients with longer segment disease. Hirschsprung disease should be considered in any newborn with delayed passage of meconium or in any child with a history of chronic constipation since birth. Other symptoms include bowel obstruction with bilious vomiting, abdominal distention, poor feeding, and failure to thrive. Prenatal ultrasound demonstrating bowel obstruction is rare, except in cases of total colonic involvement. Older children with Hirschsprung disease have usually had chronic constipation since birth. They may also show evidence of poor weight gain. Older presentation is more common in breastfed infants who will typically develop constipation around the time of weaning. Despite significant constipation and abdominal distension, children with Hirschsprung disease rarely develop encopresis. In contrast, children with functional constipation or stool-withholding behaviors more commonly develop encopresis. About 10% of children may present with diarrhea caused by enterocolitis, which is thought to be related to stasis and bacterial overgrowth. This may progress to colonic perforation, causing life-threatening sepsis. In a study of 259 consecutive patients, Menezes et al reported that 57% of patients presented with intestinal obstruction, 30% with constipation, 11% with enterocolitis, and 2% with intestinal perforation. Physical Physical examination in the newborn period is usually not diagnostic, but it may reveal a distended abdomen and/or spasm of the anus. A low imperforate anus with a perineal opening may have a similar presentation to that of a patient with Hirschsprung disease. Careful physical examination differentiates the two. In older children, however, a distended abdomen resulting from an inability to release flatus is not uncommon.
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Differential Diagnoses

Constipation Hypothyroidism Ileus Intestinal Motility Disorders Intestinal Pseudo-obstruction: Surgical Perspective Irritable Bowel Syndrome Megacolon, Acute Megacolon, Chronic Megacolon, Toxic

Workup 1. Laboratory Studies Chemistry panel: For most patients, electrolyte and renal panel findings are within reference ranges. Children presenting with diarrhea may have findings consistent with dehydration. Test results may aid in directing fluid and electrolyte management. CBC count: This test is obtained to ensure that the preoperative hematocrit and platelet count are suitable for surgery. In most cases, values are within reference ranges. Coagulation studies: These studies are obtained to ensure that clotting disorders are corrected before surgery. Again, values are expected to be within reference ranges. 2. Imaging Studies Plain abdominal radiographs may show distended bowel loops with a paucity of air in the rectum. Barium enema o Avoid washing out the distal colon with enemas before obtaining the contrast enema because this may distort a low transition zone. o The catheter is placed just inside the anus, without inflation of the balloon, to avoid distortion of a low transition zone and the risk of perforation. o Radiographs are taken immediately after hand injection of contrast and again 24 hours later. o A narrowed distal colon with proximal dilation is the classic finding of Hirschsprung disease after a barium enema. However, findings in neonates (ie, babies aged < 1 mo) are difficult to interpret and will fail to demonstrate this transition zone approximately 25% of the time. o Another radiographic finding suggestive of Hirschsprung disease is the retention of contrast for longer than 24 hours after the barium enema has been performed. 3. Other Tests Anorectal manometry o Anorectal manometry detects the relaxation reflex of the internal sphincter after distension of the rectal lumen. This normal inhibitory reflex is thought to be absent in patients with Hirschsprung disease.
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o Swenson initially used this test. In the 1960s, it was refined but has fallen into disfavor because of its many limitations. A normal physiological state is required, and sedation is also usually necessary. Although some authors find this test quite useful, false-positive results have been reported in up to 62% of cases, and false-negative results have been reported in up to 24% of cases. o Because of these limitations and questionable reliability, anorectal manometry is not commonly used in the United States. Because cardiac malformation (2-5%) and trisomy 21 (5-15%) are associated with congenital aganglionosis, cardiac evaluation and genetic testing may be warranted. Rectal biopsy o The definitive diagnosis of Hirschsprung disease is confirmed by rectal biopsy, ie, findings that indicate an absence of ganglion cells. o The definitive method for obtaining tissue for pathologic examination is by a full-thickness rectal biopsy. o The specimen must be obtained at least 1.5 cm above the dentate line because aganglionosis may normally be present below this level. o Disadvantages include the potential for bleeding and scarring and the usual need for general anesthesia during full-thickness biopsy procedures. Simple suction rectal biopsy o More recently, simple suction rectal biopsy has been used to obtain tissue for histologic examination. o Rectal mucosa and submucosa are sucked into the suction device, and a selfcontained cylindrical knife cuts off the tissue. o The distinct advantage of the suction biopsy is that it can be easily performed at the bedside. o However, pathologically diagnosing Hirschsprung disease from samples obtained by suction biopsies is considerably more difficult than pathologically diagnosing Hirschsprung disease from samples obtained by a full-thickness biopsy. o Ease of diagnosis has been improved with the use of acetylcholinesterase staining, which intensely stains the hypertrophied nerve fibers throughout the lamina propria and muscularis propria. 4. Histologic Findings Both the myenteric (Auerbach) plexus and the submucosal (Meissner) plexus are absent from the muscular layer of the bowel wall. Hypertrophied nerve trunks enhanced with acetylcholinesterase stain are also observed throughout the lamina propria and muscularis propria. More recently, immunohistochemistry with calretinin has also been used for histologic examination of aganglionic bowel, and preliminary studies have suggested that it might be more accurate than acetylcholinesterase in detecting aganglionosis Guinard-Samuel et al evaluated the diagnostic value of calretinin immunochemistry for Hirschsprung disease in 131 pediatric rectal biopsies. Of 131 biopsies, 130 were accurately diagnosed based on calretinin staining. When an additional 12 cases were considered doubtful based on the standard evaluation method, they were accurately diagnosed with calretinin immunochemistry. One false-negative case was that of Hirschsprung disease with a calretinin-positive biopsy. The
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investigators found calretinin superior to acetylcholinesterase to complete histology. TREATMENT Medical Care The general goals of medical care are 3-fold: (1) to treat the complications of unrecognized or untreated Hirschsprung disease, (2) to institute temporary measures until definitive reconstructive surgery can take place, and (3) to manage bowel function after reconstructive surgery. o Management of complications of recognized aganglionosis is directed toward reestablishing normal fluid and electrolyte balance, preventing bowel overdistension (with possible perforation), and managing complications, such as sepsis. Thus, intravenous hydration, nasogastric decompression, and, as indicated, administration of intravenous antibiotics remain the cornerstones of initial medical management. o Because cardiac malformation (2-5%) and trisomy 21 (5-15%) are associated with congenital aganglionosis, cardiac evaluation and genetic testing may be warranted. o Colonic lavage, consisting of mechanical irrigation with a large-bore rectal tube and large volumes of irrigant, may be required. o Balanced salt solutions may help prevent electrolyte imbalances. o Nasogastric decompression, intravenous fluids, antibiotics, and colonic lavage may also need to be used in postoperative patients who develop enterocolitis as a complication. Sodium cromoglycate, a mast cell stabilizer, has been reported to be of benefit in these patients as well. o Routine colonic irrigation and prophylactic antibiotic therapy have been proposed as a means of decreasing the risk of enterocolitis. o Injecting the nonrelaxing internal sphincter mechanism with botulinum toxin (BOTOX) has been shown to induce more normal patterns of bowel movements in postoperative patients with enterocolitis. Surgical Care Surgical management of Hirschsprung disease begins with the initial diagnosis, which often requires a full-thickness rectal biopsy. Traditionally, treatment also includes creating a diverting colostomy at the time of diagnosis, and, once the child grows and weighs more than 10 kg, the definitive repair is performed. This standard of treatment was developed in the 1950s after reports of relatively high leak and stricture rates with the single stage procedure were initially described by Swenson. However, with the advent of safer anesthesia and more advanced hemodynamic monitoring, a primary pull-through procedure without a diverting colostomy is increasingly being performed. Contraindications to a one-stage procedure include massively dilated proximal bowel, severe enterocolitis, perforation, malnutrition, and inability to accurately determine the transition zone by frozen section. For neonates who are first treated with a diverting colostomy, the transition zone is identified and the colostomy is placed proximal to this area. The presence of
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ganglion cells at the colostomy site must be unequivocally confirmed by a frozensection biopsy. Either a loop or end stoma is appropriate, usually based on the surgeon's preference. A number of definitive procedures have been used, all of which have demonstrated excellent results in experienced hands. The 3 most commonly performed repairs are the Swenson, Duhamel, and Soave procedures. Regardless of the pull-through procedure chosen, cleaning the colon before definitive repair is necessary. Swenson procedure The Swenson procedure was the original pull-through procedure used to treat Hirschsprung disease The aganglionic segment is resected down to the sigmoid colon and the remaining rectum, and an oblique anastomosis is performed between the normal colon and the low rectum. Duhamel procedure The Duhamel procedure was first described in 1956 as a modification to the Swenson procedure. Key points are that a retrorectal approach is used and a significant portion of aganglionic rectum is retained. The aganglionic bowel is resected down to the rectum, and the rectum is oversewn. The proximal bowel is then brought through the retrorectal space (between the rectum and sacrum), and an end-to-side anastomosis is performed on the remaining rectum. Soave (endorectal) procedure The Soave procedure was introduced in the 1960s and consists of removing the mucosa and submucosa of the rectum and pulling the ganglionic bowel through the aganglionic muscular cuff of the rectum. The original operation did not include a formal anastomosis, relying on scar tissue formation between the pull-through segment and the surrounding aganglionic bowel. The procedure has since been modified by Boley to include a primary anastomosis at the anus. Anorectal myomectomy For children (and occasionally adults) with ultrashort-segment Hirschsprung disease, removing a strip of posterior midline rectal wall is an alternative surgical option. The procedure removes a 1-cm wide strip of extramucosal rectal wall beginning immediately proximal to the dentate line and extending to the normal ganglionic rectum proximally. The mucosa and submucosa are preserved and closed. Procedures for long-segment Hirschsprung disease Patients with total colonic involvement require modified procedures to bypass the aganglionic colon yet preserve the absorptive surface area and allow for proper growth and nutritional support. Most procedures include a side-to-side anastomosis of the ganglionic/propulsive small bowel to a short segment of the aganglionic/absorptive colon.
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Whether a short right colonic patch or a small bowel-to-rectal wall Duhamel anastomosis is created is perhaps less important than maintaining a short patch length (< 10 cm). Long-segment anastomoses, such as the Martin procedure, are no longer advocated. A laparoscopic approach to the surgical treatment of Hirschsprung disease was first described in 1999 by Georgeson. The transition zone is first identified laparoscopically, followed by mobilization of the rectum below the peritoneal reflection. A transanal mucosal dissection is performed, followed by prolapsing of the rectum through the anus and anastomosis. Functional outcomes appear to be equivalent to open techniques based on short-term results. Transanal pull-through in which no intra-abdominal dissection is performed has also been described. The entire procedure is performed from below in a manner similar to perineal rectosigmoidectomy. The transition zone is identified and anastomosis is performed. Similar to the laparoscopic approach, outcomes have been similar to open single stage approaches with the benefits of minimal analgesia and shortened hospital stays. However, a retrospective study among 41 patients, comparing the transanal pull-through approach to the transabdominal approach, demonstrated a significantly higher rate of incontinence with the transanal approach.Whether or not these findings will be reproducible in larger, prospective trials remains to be determined. The possibility of stem cell transplantation into the aganglionic gut and the reactivation of dormant stem cells in the gut to regenerate the enteric nervous system are being actively investigated. Experiments have demonstrated that neural crest stem cells (NCSC) are present, even in the adult gut, and are capable of proliferation and differentiation. In addition, researchers have been able to inject neural crest stem cells and later identify them in the native rectum. Whether or not injected stem cells or reactivated native progenitor cells will have the capability to recreate a functional enteric nervous system remains to be elucidated.

Diet The patient should have nothing by mouth before the operation. Institute tube feeding or formula/breast milk once bowel function resumes. High-fiber diets and diets containing fresh fruits and vegetables may optimize postoperative bowel function in certain patients. Activity

Limit physical activity for about 6 weeks to allow the wound to heal properly (applies more to older children).

Medication
The goals of pharmacotherapy are to eradicate infection, to reduce morbidity, and to prevent complications.

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Antibiotics

Empiric antimicrobial therapy must be comprehensive and cover all likely pathogens in the context of this clinical setting. Antibiotic selection should be guided by blood culture sensitivity whenever feasible. o Ampicilin Bactericidal activity against susceptible organisms. Alternative to amoxicillin when unable to take medication orally. o Gentamicin Aminoglycoside antibiotic for gram-negative coverage. Used in combination with both an agent against gram-positive organisms and one that covers anaerobes. Not the DOC. Consider if penicillins or other less-toxic drugs are contraindicated, when clinically indicated, and in mixed infections caused by susceptible staphylococci and gram-negative organisms. Dosing regimens are numerous; adjust dose based on CrCl and changes in volume of distribution. May be administered IV/IM. o Metronidazole Imidazole ring-based antibiotic active against various anaerobic bacteria and protozoa. Used in combination with other antimicrobial agents (except for Clostridium difficile enterocolitis). Toxins

Induce more normal patterns of bowel movements in postoperative patients with enterocolitis. o Onabotulinum toxin(BOTOX) Binds to receptor sites on motor nerve terminals and inhibits release of acetylcholine, which in turn inhibits transmission of impulses in neuromuscular tissue. Further Inpatient Care If a diverting colostomy is created in a newborn, he or she must remain in the hospital until the ostomy is functioning and feeding goals are obtained. Feedings are usually initiated 24-48 hours after the creation of the colostomy. After the definitive pull-through procedure is performed, the patient is hospitalized until full feedings are possible and evidence of the return of bowel function is obtained. Patients are to take nothing by mouth, with intravenous fluid hydration until they pass flatus or have a bowel movement. Once this occurs, clear liquids may be started, and the diet may be advanced until feeding goals are obtained. Intravenous antibiotics are also continued until evidence of proper bowel function is observed.

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Further Outpatient Care After a definitive pull-through procedure is performed, normal growth and development should ensue. Patients should be monitored for normal bowel habits. Patients with no other underlying disorders and no postoperative complications should develop normal bowel habits. However, such habits may not develop until the patient is older. Inpatient & Outpatient Medications

Immediately after the diverting colostomy is created or a definitive pull-through procedure is performed, patients should usually remain on broad-spectrum intravenous antibiotics (eg, ampicillin, gentamicin, metronidazole) until bowel function has returned and feeding goals are achieved. Once a definitive pull-through procedure is performed and normal bowel function is obtained, no additional medication is required. Transfer

Neonates and older children thought to have Hirschsprung disease should be treated in a center where pediatric specialists are available to make the diagnosis and to provide definitive care. Prevention

Hirschsprung disease cannot be prevented; however, heightened clinical awareness prevents a delay in diagnosis. Complications

Potential complications for the complex operations associated with Hirschsprung disease encompass the entire spectrum of GI surgical complications. Although the incidence rates of these complications are roughly the same when surgeons with experience perform the procedures versus when surgeons with less experience perform them, each procedure has been associated with a specific level of difficulty. Complications may include an increased incidence of postoperative enterocolitis with the Swenson procedure, constipation following the Duhamel repair, and diarrhea and incontinence with the Soave pull-through procedure. In general, the complications are anastomotic leakage and stricture formation (515%), intestinal obstruction (5%), pelvic abscess (5%), wound infection (10%), and wound dehiscence and incomplete resection requiring re-operation (5%). Patients with 2-staged operations may also develop stomal complications, such as prolapse or stricture. Later complications associated with surgical management of Hirschsprung disease include enterocolitis, continued obstructive symptoms, incontinence, chronic constipation (6-10%), and late mortality, mostly affecting patients with longsegment disease (1-5%). Rectovesical fistulas have also been reported in the literature. Enterocolitis accounts for significant morbidity and mortality in patients with Hirschsprung disease. Enterocolitis results from an inflammatory process of the mucosa of the colon or small intestine. As the disease progresses, the lumen of the intestine becomes filled with fibrinous exudate and is at increased risk for perforation. This process may occur in both the aganglionic and ganglionic portion of the bowel.
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Patients typically present with explosive diarrhea, abdominal distention, fever, vomiting, and lethargy. Approximately 10-30% of patients with Hirschsprung disease develop enterocolitis. Long-segment disease is associated with an increased incidence of enterocolitis. Moreover, the risk of developing enterocolitis remains despite surgical correction. Treatment consists of intravenous antibiotics and aggressive colonic irrigations. Some authorities advocate decompression of the bowel, especially in patients with long-segment disease, with an enterostomy placed proximally to the transition zone. Patients may present postoperatively with abdominal distension, vomiting, or constipation indicative of ongoing obstruction. Mechanical obstruction can be easily diagnosed with digital rectal exam and barium enema. Serial dilatations or even revision of the pull-through may be required. Persistent aganglionosis occurs rarely and may be due to pathologic error, inadequate resection, or loss of ganglion cells after the pull-through. If a rectal biopsy does not show ganglion cells, revision of the pull-through must be done. Motility disorders may be associated with Hirschsprung disease. Workup may include contrast studies, manometry, and biopsy to evaluate for intestinal neuronal dysplasia. Internal sphincter achalasia may result in persistent obstruction. This can be treated with internal sphincterotomy, intrasphincteric botulinum toxin, or nitroglycerin paste. Most cases will resolve by the age of 5 years. Functional megacolon may be present due to stool-holding behavior. Bowel management regimens may be implemented with cecostomy and antegrade enemas reserved for refractory cases. Incontinence may be the result of abnormal sphincter function, decreased sensation, or overflow incontinence secondary to constipation. In general, anorectal manometry and ultrasound should aid in differentiating between these diagnoses. Prognosis

The long-term outcome after definitive repair of Hirschsprung disease is difficult to determine because of conflicting reports in the literature. Some investigators report a high degree of satisfaction, while others report a significant incidence of constipation and incontinence. Unfortunately, approximately 1% of patients with Hirschsprung disease require a permanent colostomy to correct incontinence. As expected, patients with associated trisomy 21 tend to have poorer clinical outcomes. In general, more than 90% of patients with Hirschsprung disease have satisfactory outcomes, although many patients may have disturbances of bowel function for several years before developing normal continence

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2.2 INTUSSUSCEPTION
Background Intussusception is a process in which a segment of intestine invaginates into the adjoining intestinal lumen, causing bowel obstruction. A common cause of abdominal pain in children, intussusception is suggested readily in pediatric practice based on a classic triad of signs and symptoms: vomiting, abdominal pain, and passage of blood per rectum. Intussusception presents in 2 variants: idiopathic intussusception, which usually starts at the ileocolic junction and affects infants and toddlers, and enteroenteral intussusception (jejunojejunal, jejunoileal, ileoileal), which occurs in older children. The latter is associated with special medical situations (eg, Henoch-Schnlein purpura [HSP], cystic fibrosis, hematologic dyscrasias) or may be secondary to a lead point and occasionally occur in the postoperative period. Intussusception is demonstrated in the images below.

Etiology and Pathophysiology

The pathogenesis of idiopathic intussusception is not well established. It is believed to be secondary to an imbalance in the longitudinal forces along the intestinal wall. In enteroenteral intussusception, this imbalance can be caused by a mass acting as a lead point or by a disorganized pattern of peristalsis (eg, an ileus in the postoperative period). As a result of imbalance in the forces of the intestinal wall, an area of the intestine invaginates into the lumen of adjacent bowel. The invaginating portion of the intestine (ie, the intussusceptum) completely telescopes into the receiving portion of the intestine (ie, the intussuscipiens). This process continues and more proximal areas follow, allowing the intussusceptum to proceed along the lumen of the intussuscipiens. If the mesentery of the intussusceptum is lax and the progression is rapid, the intussusceptum can proceed to the distal colon or sigmoid and even prolapse out the anus. The mesentery of the intussusceptum is invaginated with the intestine, leading to the classic pathophysiologic process of any bowel obstruction. Early in this process, lymphatic return is impeded; then, with increased pressure within the wall of the intussusceptum, venous drainage is impaired. If the obstructive process continues, the pressure reaches a point at which arterial inflow is inhibited, and infarction ensues. The intestinal mucosa is extremely sensitive to ischemia because it is farthest away from the arterial supply. Ischemic mucosa sloughs off, leading to the
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heme-positive stools and subsequently to the classic "currant jelly stool" (a mixture of sloughed mucosa, blood, and mucus). If untreated, transmural gangrene and perforation of the leading edge of the intussusceptum occur.

Lead Points In approximately 2-12% of children with intussusception, a surgical lead point is found. Occurrence of surgical lead points increases with age and indicates that the probability of nonoperative reduction is highly unlikely. Examples of lead points are as follows: Meckel diverticulum Enlarged mesenteric lymph node Benign or malignant tumors of the mesentery or of the intestine, including lymphoma, polyps, ganglioneuroma, and hamartomas associated with PeutzJeghers syndrome Mesenteric or duplication cysts Submucosal hematomas, which can occur in patients with HSP and coagulation dyscrasias Ectopic pancreatic and gastric rests Inverted appendiceal stumps Sutures and staples along an anastomosis Intestinal hematomas secondary to abdominal trauma Foreign body Hemangioma Kaposi sarcoma Post-transplantation lymphoproliferative disorder (PTLD) Henoch-Schnlein purpura

Children with HSP often present with abdominal pain secondary to vasculitis in the mesenteric, pancreatic, and intestinal circulation. If pain precedes cutaneous manifestations, differentiating HSP from appendicitis, gastroenteritis, intussusception, or other causes of abdominal pain is difficult.

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Occasionally, children with HSP develop submucosal hematomas, which can act as lead points and cause small bowel intussusception. Elucidating the cause of the pain is essential in any child in whom HSP is suspected. Since the intussusception associated with HSP is usually enteroenteral (small bowel to small bowel), these patients require surgery rather than an enema. During the initial investigation, obtain supine and upright plain radiographs of the abdomen to identify the small bowel obstruction associated with intussusception. If radiographic findings are normal, assume the patient with HSP has mesenteric vasculitis and treat with steroids. Hemophilia and other coagulation disorders Patients with hemophilia and other bleeding disorders may develop intestinal submucosal hematomas, leading to intussusception. Differential diagnosis includes retroperitoneal hemorrhage in addition to other usual causes of abdominal pain. Radiographs of the abdomen should reveal a pattern of small bowel obstruction if intussusception is present. In the absence of intussusception, treatment is supportive with correction of coagulopathy. Postoperative intussusceptions Intussusception is a rare postoperative complication, occurring in 0.08-0.5% of laparotomies. It can take place independently of the site of the operation. The likely mechanism is due to a difference in activity between segments of the intestine recovering from an ileus, which produces the intussusception. Intussusception is suggested in any postoperative patient who has a sudden onset of a small bowel obstruction after a period of ileus, usually within the first 2 weeks after surgery. Intestinal obstruction secondary to adhesions usually occurs more than 2 weeks after the operation. The treatment is prompt operative reduction. Indwelling catheters Very rarely, indwelling jejunal catheters can lead to intussusception by acting as a lead point, which is especially true if the tip of the catheter has been manipulated or cut so that its surface is not smooth. The clinical picture is that of a small bowel obstruction. Diagnosis can be facilitated by injecting contrast proximal to the catheter and then through the tip of the catheter. Surgery is required to remove the tip of the catheter and to reduce the intussusception. Cystic fibrosis Intussusception occurs in approximately 1% of patients with cystic fibrosis. Intussusception is assumed to be precipitated by the thick, inspissated stool material that adheres to the mucosa and acts as a lead point. Often, the course is indolent and chronic. Differential diagnosis includes distal intestinal obstruction syndrome and appendicitis. The majority of these patients require operative reduction.

Other causes
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Electrolyte derangements associated with various medical conditions can produce aberrant intestinal motility, leading to enteroenteral intussusception. Experimental studies in animals showed that abnormal intestinal release of nitric oxide, an inhibitory neurotransmitter, caused relaxation of the ileocecal valve, predisposing to ileocecal intussusception. Other studies have demonstrated that certain antibiotics cause ileal lymphoid hyperplasia and intestinal dysmotility, with resultant intussusception. A viral etiology has also been implicated. A seasonal variation in the incidence of intussusception that corresponds to the peaks in frequency of gastroenteritis (spring and summer) and respiratory illnesses (midwinter) has been described. Lappalainen et al have studied prospectively the role of viral infections in the pathogenesis of intussusception. They concluded that the simultaneous presence of human herpesvirus-6 and adenovirus infections appeared to correlate with risk for intussusception. An association was found between the administration of a rotavirus vaccine (RotaShield) and the development of intussusception. RotaShield has since been removed from the market. These patients were younger than usual for idiopathic intussusception and were more likely to require operative reduction. It was hypothesized that the vaccine caused reactive lymphoid hyperplasia, which acted as a lead point. In February 2006, a new rotavirus vaccine [RotaTeq] was approved by the US Food and Drug Administration [FDA]. RotaTeq did not show an increased risk for intussusception compared with placebo in clinical trials. A study that involved more than 63,000 patients who received Rotarix or placebo at ages 2 and 4 months reported a decreased risk for intussusception in those patients receiving Rotarix. Analysis of data from the Kids Inpatient Database in the United States has shown a lower than expected rate of hospital discharges for intussusception in infants since the reintroduction of the rotavirus vaccine in 2006. Familial occurrence of intussusception has been reported in a few cases. Intussusception in dizygotic twins has also been described; however, these reports are extremely rare. Idiopathic In most infants and toddlers with intussusception, the etiology is unclear. This group is believed to have idiopathic intussusception. One theory to explain the possible etiology of idiopathic intussusception is that it occurs because of an enlarged Peyer patch; this hypothesis is derived from 3 observations: (1) often, the illness is preceded by an upper respiratory infection, (2) the ileocolic region has the highest concentration of lymph nodes in the mesentery, and (3) enlarged lymph nodes are often observed in patients who require surgery. Whether the enlarged Peyer patch is a reaction to the intussusception or a cause of it is unclear. Epidemiology A wide geographic variation in incidence of intussusception among countries and cities within countries makes determining a true prevalence of the disease difficult. Studies on the absolute prevalence of intussusception in the United States are not available. Its estimated incidence is approximately 1 case per 2000 live births. In Great Britain, incidence varies from 1.6-4 cases per 1000 live births.
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Overall, the male-to-female ratio is approximately 3:1. With advancing age, gender difference becomes marked; in patients older than 4 years, the male-to-female ratio is 8:1. Two thirds of children with intussusception are younger than 1 year; most commonly, intussusception occurs in infants aged 5-10 months. Intussusception is the most common cause of intestinal obstruction in patients aged 5 months to 3 years. Intussusception can account for as many as 25% of abdominal surgical emergencies in children younger than 5 years, exceeding the incidence of appendicitis. Although extremely rare, intussusception has been reported in the neonatal period. Prognosis The prognosis in patients with intussusception is excellent if the condition is diagnosed and treated early; otherwise, severe complications and death may occur. The recurrence rate of intussusception after nonoperative reduction is usually less than 10% but has been reported to be as high as 15%. Most intussusceptions recur within 72 hours of the initial event; however, recurrences have been reported as long as 36 months later. More than 1 recurrence suggests the presence of a lead point. A recurrence is usually heralded by the onset of the same symptoms as appeared during the initial event. Provide similar treatment for a recurrence unless the suggestion of a lead point is very strong (in which case, surgical exploration should be contemplated). The recurrence rates after air enema and barium enema are 4% and 10%, respectively. Recurrences respond to nonoperative reduction in almost 95% of cases. Complications associated with intussusception, which rarely occur when the diagnosis is prompt, include the following: Perforation during nonoperative reduction Wound infection Internal hernias and adhesions causing intestinal obstruction Sepsis from undetected peritonitis (major complication from a missed diagnosis) Intestinal hemorrhage Necrosis and bowel perforation Recurrence With early diagnosis, appropriate fluid resuscitation, and therapy, the mortality rate from intussusception in children is less than 1%. If left untreated, this condition is uniformly fatal in 2-5 days.

History The constellation of signs and symptoms of intussusception represents one of the most classic presentations of any pediatric illness; however, the classic triad of vomiting, abdominal pain, and passage of blood per rectum occurs in only one third of patients. The patient is usually an infant who presents with vomiting, abdominal pain, passage of blood and mucus, lethargy, and a palpable abdominal mass. These symptoms are often preceded by an upper respiratory infection.

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In rare circumstances, the parents report 1 or more previous attacks of abdominal pain within 10 days to 6 months prior to the current episode. These patients are more likely to have a surgical lead point causing recurrent attacks of intussusception with spontaneous reduction. Pain in intussusception is colicky, severe, and intermittent. The parents or caregivers describe the child as drawing the legs up to the abdomen and kicking the legs in the air. In between attacks, the child appears calm and relieved. Initially, vomiting is nonbilious and reflexive, but when the intestinal obstruction occurs, vomiting becomes bilious. Any child with bilious vomiting is assumed to have a condition that must be treated surgically until proven otherwise. Parents also report the passage of stools that look like currant jelly. This is a mixture of mucus, sloughed mucosa, and shed blood. Diarrhea can also be an early sign of intussusception. Lethargy is a relatively common presenting symptom with intussusception. The reason lethargy occurs is unknown, because lethargy has not been described with other forms of intestinal obstruction. Lethargy can be the sole presenting symptom, which makes the diagnosis challenging. Patients are found to have an intestinal process late, after initiation of a septic workup. In a prospective observational study, Weihmiller et al evaluated several clinical criteria to risk-stratify children with possible intussusception. This study identified that age older than 5 months, male sex, and lethargy were 3 important clinical predictors of intussusception. Physical Examination Upon physical examination, the patient is usually chubby and in good health. Intussusception is uncommon in children who are malnourished. The child is found to have periods of lethargy alternating with crying spells, and this cycle repeats every 1530 minutes. The infant can be pale, diaphoretic, and hypotensive if shock has occurred. The hallmark physical findings in intussusception are a right hypochondrium sausageshaped mass and emptiness in the right lower quadrant (Dance sign). This mass is hard to detect and is best palpated between spasms of colic, when the infant is quiet. Abdominal distention frequently is found if obstruction is complete. If intestinal gangrene and infarction have occurred, peritonitis can be suggested on the basis of rigidity and involuntary guarding. Early in the disease process, occult blood in the stools is the first sign of impaired mucosal blood supply. Later on, frank hematochezia and the classic currant jelly stools appear. Fever and leukocytosis are late signs and can indicate transmural gangrene and infarction. Patients with intussusception often have no classic signs and symptoms, which can lead to an unfortunate delay in diagnosis and disastrous consequences.
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Maintaining a high index of suspicion for intussusception is essential when evaluating a child younger than 5 years who presents with abdominal pain or when evaluating a child with HSP or hematologic dyscrasias. Diagnostic Considerations In rare circumstances, intussusception presents with prolapse of the intussusceptum through the anus. Such prolapse can be confused with rectal prolapse. Careful examination can differentiate between the 2 presentations, as follows: The anal crypts are everted with rectal prolapse and not with intussusception An examining finger can be passed between the prolapse and the anus in patients with intussusception but not in patients with rectal prolapse Conditions to consider in the differential diagnosis of intussusception, along with those in the next section, include the following:

Milk allergy Incarcerated hernia Internal hernia Other, rare causes of intestinal obstruction Adhesive band Volvulus Meckel diverticulum Any process causing abdominal pain or GI bleeding Differential Diagnoses

Appendicitis Blunt Abdominal Trauma in Emergency Medicine Colic Cyclic Vomiting Syndrome Gastroenteritis Hernias Testicular Torsion in Emergency Medicine Volvulus

Workup Laboratory investigation is usually not helpful in the evaluation of patients with intussusception, although leukocytosis can be an indication of gangrene if the process is advanced. With persistent vomiting and sequestration of fluid in the obstructed bowel, dehydration and electrolyte imbalance occur. Ultrasonographic imaging has been found to have a high sensitivity and specificity in the detection of ileocolic intussusception. Abdominal radiographs can also reveal diagnostic characteristics of intussusception, but their sensitivity and specificity has been called into question. If a segment of intestine is resected at the time of operative reduction, intestinal obstruction with edema, congestion, lymphocytic infiltration, and transmural infarction are typical findings.
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1. Radiographs After obtaining a thorough history and performing a careful physical examination, obtain plain radiographs of the abdomen with the patient in the supine and upright positions. Plain abdominal radiography reveals signs that suggest intussusception in only 60% of cases. (See the images below.) Plain radiograph findings may be normal early in the course of intussusception. As the disease progresses, the earliest radiographic evidence includes an absence of air in the right lower and upper quadrants and a right upper quadrant soft tissue density present in 25-60% of patients.

Abdominal radiograph shows small bowel dilatation and paucity of gas in the right lower and upper quadrants. Note intussusception in the left upper quadrant on this plain film of an infant with pain vomiting. Courtesy of Dr. Kelly Marshall, Children's Healthcare of Atlanta at Scottish Rite. These findings are followed by an obvious pattern of small bowel obstruction, with dilatation and air-fluid levels in the small bowel only. If the distention is generalized and the air-fluid levels are also present in the colon, the findings more likely represent acute gastroenteritis than intussusception. A left lateral decubitus view is also helpful. If the view exhibits air in the cecum, the presence of ileocecal intussusception is highly unlikely. Limitations of radiography Morrison et al concluded that, when interpreted by pediatric emergency physicians, abdominal radiographs have a low sensitivity and specificity for diagnosing intussusception. In a prospective experimental study, 14 pediatric emergency physicians interpreted radiographs of 50 cases of intussusception and 50 matched controls; these interpretations showed a sensitivity of 48% and a specificity of 21%. In 11% of cases, the abdominal radiographs were incorrectly interpreted as reassuring. 2. Ultrasonography and CT Scanning Hallmarks of ultrasonography include the target and pseudokidney signs.

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Abdominal ultrasonography reveals the classic target sign of an intussusceptum inside an intussuscipiens. One study reported that the overall sensitivity and specificity of ultrasonography for detecting ileocolic intussusception was 97.9% and 97.8%, respectively. The authors concluded that ultrasonography should be used as a first-line examination for the assessment of possible pediatric intussusception. Ultrasonography eliminates the risk of exposure to ionizing radiation and can help to depict lead points and residual intussusceptions. It also helps to rule out other possible causes of abdominal pain. Even so, ultrasonography is highly operator dependent; therefore, interpret results with caution. The presence of ascites and long segments of intussusception can be used as sonographic predictors of failure for nonoperative management. Sonographic detection of ascites, air, and absence of blood flow in the intestinal wall strongly suggest bowel gangrene. Computed tomography (CT) scanning has also been proposed as a useful tool to diagnose intussusception (see the image below); however, CT scan findings are unreliable, and CT scanning carries risks associated with intravenous contrast administration, radiation exposure, and sedation.

CT scan reveals the classic ying-yang sign of an intussusceptum inside an intussuscipiens. 3. Contrast Enema The traditional and most reliable way to make the diagnosis of intussusception in children is to obtain a contrast enema (either barium or air). Contrast enema is quick and reliable and has the potential to be therapeutic.

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Barium enema shows intussusception in the descending colon. Intussusception evident during air contrast enema prior to reduction. Courtesy of Dr. Kelly Marshall, Children's Healthcare of Atlanta at Scottish Rite. Exercise caution when performing contrast enema in children older than 3 years, because most of these patients have a surgical lead point, usually in the small bowel. The diagnostic and therapeutic yield of the enema is lower in these patients. Enema is contraindicated in patients in whom bowel gangrene or perforation is suspected.

Treatment
From a clinical perspective, using a cutoff age of 3 years is helpful for dividing patients with intussusception into 2 groups. Patients aged 5 months to 3 years who have intussusception rarely have a lead point (ie, idiopathic intussusception) and are usually responsive to nonoperative reduction. Older children and adults more often have a surgical lead point to the intussusception and require operative reduction. A decreased rate of operative intussusception management is noted in specialized pediatric hospitals compared with nonpediatric hospitals. This is attributed to the increased experience with and use of the various radiologic reduction techniques. Intussusception seen in patients older than age 2-3 years may be associated with various medical conditions or situations. The intussusception in these patients is usually small bowel to small bowel; therefore, therapeutic enemas are less helpful and are usually unsuccessful. A few hours after nonoperative reduction, start the infant on a regular age-appropriate diet as tolerated. If operative reduction was performed, advance the diet as with any postoperative patient. The only limitations on activity after the treatment of intussusception are those imposed by the postoperative state. Nonoperative Reduction Tailor treatment of the child with intussusception to the stage at presentation. For all children, start intravenous fluid resuscitation and nasogastric decompression as soon as possible.
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The presence of peritonitis and any evidence of perforation revealed on plain radiographs are the only 2 absolute contraindications to an attempt at nonoperative reduction with a therapeutic enema. Therapeutic enemas can be hydrostatic, with either barium or water-soluble contrast, or pneumatic, with air insufflation. Therapeutic enemas can be performed under fluoroscopic or ultrasonographic guidance. The technique chosen is not important as long as the radiologist performing the enema is comfortable with the method. Preferably, the pediatric surgeon involved is present at the reduction. Since Harald Hirschsprungs description of a systematic approach to hydrostatic reduction of intussusception, the reported success rate of this nonoperative intervention has widely varied (< 40% to >90%). This variability in outcome attests to the various factors involved in successful hydrostatic reduction. Among these are factors that are individual to the patient (age, duration of symptoms, presence of lead points) and others that depend on the technique used. Paramount among the latter category is the availability of a team of pediatric surgeons and radiologists with the necessary expertise, determination, and dedication. Even among pediatric radiologists, consensus has been lacking on methodologic issues, including the choice of reducing agent, the type of catheter, the role of the external manipulation of the abdomen, the use of medications, and the establishment of guidelines for pressure limits and number of attempts. Air enema is the treatment of choice in many institutions. The risk of major complications with this technique is small. Its success is decreased, as with other reducing agents, in patients with small bowel intussusceptions and in those with prolapsing intussusceptions. When performing a therapeutic enema, the recommended pressure of air insufflation should not exceed 120 cm of water. When using barium or water-soluble contrast, the column of contrast should not exceed 100 cm above the level of the buttocks. Traditionally, an attempt was not considered successful until the reducing agent, whether air, barium, or water-soluble contrast, was observed refluxing back into the terminal ileum, but evidence has shown that this is not entirely necessary. Most intussusceptions that failed to show reflux into the ileum were due to either an edematous or competent ileocecal valve. When these patients were explored, they displayed a completely reduced intussusception. According to this study, a patient who becomes asymptomatic after nonoperative reduction that fails to show reflux of the reducing agent into the ileum can safely be observed. The value of repeated attempts at nonoperative reduction, if the first attempt is unsuccessful, has not been determined. Some clinicians recommend taking the patient to surgical care if the first attempt fails, and other clinicians advocate 1 or 2 subsequent attempts within a few minutes to a few hours after the first attempt. Delay between the reduction attempts may place the patient in the "window" of spontaneous resolution, which has been reported with an incidence of 5-6%. In addition, the first attempt can reduce the intussusception partially, making the intussusceptum less edematous, with improved venous drainage. Some reports have postulated that reduced bowel edema with improved venous drainage is one of the reasons why the success rate of hydrostatic reduction increases with the administration of a second enema. If repeated attempts are
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unsuccessful, any progress in pushing back the intussusceptum toward the ileocecal valve during operative reduction is advantageous. Delay in performing surgery because of additional attempts at nonoperative reduction has been demonstrated to have no adverse effects on the rates of success of operative reduction and patient morbidity. When therapeutic enema is successful, the results are immediate and extremely gratifying. The infant falls asleep almost immediately, and the obstruction is relieved, allowing the resumption of a normal diet. A short period of overnight observation usually is warranted before discharge. Therapeutic enema is of no value in patients with small boweltosmall bowel intussusception, which usually occurs in older children who have other associated diseases (eg, HSP, hemophilia, Peutz-Jeghers syndrome, malignancies). Intussusception in the first month of life is rare. Most of these patients are found to have a surgical lead point; therefore, enemas are rarely successful and are potentially dangerous. Surgical Reduction If nonoperative reduction is unsuccessful or if obvious perforation is present, promptly refer the infant for surgical care. Traditional entry into the abdomen is through a right paraumbilical incision. Deliver the intussusception into the wound and attempt nonoperative reduction. Milking the intussusceptum out of the intussuscipiens is important. Sustain gentle manual pressure rather than pulling out the intussusceptum to avoid risk of iatrogenic perforation. If operative reduction is successful, appendectomy is often performed if the blood supply of the appendix is compromised. A cecopexy is not necessary. Risk of recurrence of the intussusception after operative reduction is less than 5%. If manual reduction is not possible or perforation is present, perform a segmental resection with an end-to-end anastomosis. A diligent search for any lead points is warranted, especially if the patient is older than 2-3 years. Laparoscopy has been added to the surgical armamentarium in the treatment of intussusception. Laparoscopy can be performed in all cases of intussusception. Reduction of the intussusception, confirmation of radiologic reduction, and detection of lead points have all been reported. Laparoscopy is associated with faster recovery times, decreased length of stay, decreased time to full feeds, and lower requirements of pain medication.

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Laparoscopic view of a jejuno-jejunal intussusception Inpatient and Discharge Considerations With toleration of diet, patients treated with nonoperative reduction are usually discharged 12-18 hours after the therapeutic enema. After operative reduction, postoperative progress dictates the length of stay. Some have proposed patient discharge from the emergency department after a short period of observation. Their recommendation is based on the fact that hospitalized children after enema-reduced intussusceptions often require minimal interventions and often have no serious enema-related complications. Obviously, the decision of where to observe the patient must be made on an individual basis, keeping in mind the small, but significant, recurrence rate. Consultations, Monitoring, and Transfer Involve a pediatric surgeon as early as possible to help coordinate the care and resuscitation of the child. The availability of a pediatric radiologist enhances the chances of successful nonoperative reduction. Patients treated with nonoperative reduction usually do not require any specific follow-up care unless problems exist. Postoperatively, patients require 1-2 visits to the pediatric surgeon to check on the progress of healing. Radiologic reduction is best performed with the surgeon on standby, because complications may develop and require immediate surgery. This may require transfer to a facility with a pediatric surgeon. The benefit of transfer must be weighed against the delay in reduction

Medication
Drug therapy is not currently a component of the standard of care for intussusception. Medications are limited to those used for pain control after surgery. In the immediate postoperative period, weight-adjusted intravenous morphine is usually administered. As the oral diet is resumed, acetaminophen with codeine or ibuprofen is given orally. Patients with HSP or hemophilia and intussusception require standard therapy for the individual disease. Some investigators have advocated the use of steroids in intussusception secondary to HSP and lymphoid hyperplasia, with varied results.

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1. Opioid Analgesics Class Summary Opioid analgesics are used to control acute crisis and chronic pain. An opioid analgesic, morphine interacts with endorphin receptors in the CNS. Acetaminophen with codeine (Tylenol-3) This is a mild narcotic analgesic. Provide the family with a small supply for use when pain severity is greater than what can be managed with acetaminophen alone. Counsel parents to use only for severe pain, not as the first medication for each symptom. 2. Nonsteroidal Anti-Inflammatory Drugs Class Summary These agents add to the effects of opioids during painful crises and allow use of lower doses of narcotics. Ibuprofen is usually the drug of choice for the treatment of mild to moderate pain, if no contraindications exist. It inhibits inflammatory reactions and pain by decreasing the activity of the enzyme cyclo-oxygenase, resulting in inhibition of prostaglandin synthesis.

2.3 ANORECTAL ANOMALIES (IMPERFORATE ANUS)

The normal continence mechanism for bowel control consists of an internal sphincter composed of smooth muscle and the striated muscle complex from the levator ani and external sphincter. The striated muscles assume a funnel shape, originating from the pubis, pelvic rim, and sacrum. These muscles converge at the perineum while interdigitating with the internal and external sphincters. Most of the striated muscle
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complex consists of horizontal muscles that contract against the wall of the rectum and anus while longitudinal muscle fibers run in a cephalocaudal direction and elevate the anus. Anomalies of the anus result from abnormal growth and fusion of the embryonic anal hillocks. The rectum is normally developed, and the sphincter mechanism is usually intact. With proper surgical treatment, the sphincter will function normally. Anomalies of the rectum develop as a result of faulty division of the cloaca into the urogenital sinus and rectum by the urorectal septum. In these anomalies, the internal sphincter and striated muscle complex are hypoplastic. Therefore, surgical repair results in varying degrees of continence.

Classification Physical examination of the perineum and imaging studies determine the extent of malformation of the anus or rectum. When an orifice is evident at the perineum or distal vagina, the anomaly is referred to as a low imperforate anus; the absence of an obvious orifice at the perineal level suggests a high imperforate anus .In most instances, with high imperforate anus, there is a communication (fistula) of the rectum with the urethra or bladder in the male or with the upper vagina in the female. Distinguishing between a high and low anomaly may be possible radiologically by determining the position of the rectum in relation to the levator ani or pubococcygeal line.

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Low Anomalies In low anomalies, the anus may be ectopically placed anterior to its normal position or it may be in the normal position with a narrow outlet due to stenosis or an anal membrane. There may be no opening in the perineum, but the skin at the anal area is heaped up and may extend as a band in the perineal raphe completely covering the anal opening. A small fistula usually extends from the anus anteriorly to open in the raphe of the perineum, scrotum, or penis in the male or the vulva in the female. These babies often have well-developed perineal and gluteal musculature and rarely have sacral vertebral anomalies. High Anomalies In high anomalies the rectum may end blindly (10%), but more commonly there is a fistula to the urethra or bladder in the male or the upper vagina in the female. In the female, a very high fistula may extend between the two halves of a bicornuate uterus directly to the bladder. Patients with high imperforate anus often have deficient pelvic and gluteal innervation and musculature, a high incidence of sacral anomalies, and a poor prognosis for continence after surgical repair. The most severe of the high deformities is a cloacal anomaly in which there is a common channel between the poorly developed pelvic structures (urogenital sinus and rectum) with a single perineal opening.

Clinical Findings
Signs The best means of establishing the type of anorectal anomaly is by physical examination. In low anomalies, an ectopic opening from the rectum can be detected in the perineal raphe in males or in the lower vagina, vestibule, or fourchette in females. A high anomaly exists when no orifice or fistula can be seen upon examination of the perineum or when meconium is found at the urethral meatus, in the urine, or in the upper vagina. Absence of external sphincter contraction with cutaneous stimulation of the anus may also help differentiate between high and low lesions.
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Imaging Studies No single test is ideal in the evaluation of imperforate anus, so several studies are used to define the neonatal anatomy. Radiographs are sometimes useful when the clinical impression is unclear. A lateral film of the pelvis with the baby inverted (Wangensteen invertogram), once commonly used, is an inaccurate method of establishing the lower extent of the rectum because swallowed air may not have completely displaced the meconium from the rectum; or the striated muscle complex may be contracted, which obliterates the lumen and makes it look as if the gas in the rectum ends high in the pelvis. With crying or straining, the puborectalis muscle and rectum may actually descend below the ischium, giving a falsely low estimate of rectal height. Gas in the bladder clearly indicates a rectourinary fistula. Lower abdominal and perineal ultrasound, CT, and MRI have been used to define the pelvic anatomy and location in relation to the rectal musculature. Anomalies of the vertebrae and the urinary tract occur in two-thirds of all patients with high anomalies and in one-third of male patients with low anomalies. Vertebral abnormalities in females invariably indicate a high imperforate anus. Anomalies of the sacrum warrant MRI of the lumbosacral area to identify spinal cord anomalies such as a tethered filum terminale. Complications Associated anomalies occur in up to 70% in those with a high anomaly. Imperforate anus is associated with the VACTERL syndrome (see Esophageal Anomalies). The possible constellation of anomalies includes esophageal atresia, anomalies of the gastrointestinal tract, hemivertebrae or agenesis of one or more sacral vertebrae (agenesis of S1, S2, or S3 is associated with corresponding neurologic deficits, resulting in neuropathic bladder and greatly impaired continence), genitourinary anomalies (up to 50% incidence with high imperforate anus), and anomalies of the heart and upper limbs/digits. Delay in diagnosis of imperforate anus may result in excessively large bowel distention and perforation. The presence of a rectourinary fistula allows reflux of urine into the rectum and colon, and absorption of ammonium chloride may cause acidosis. Colon contents will reflux into the urethra, bladder, and upper tracts, producing recurrent pyelonephritis. Treatment The three main goals of treatment are (1) to allow passage of stool (ie, relieve obstruction), (2) to place the rectal pouch on the perineum in good position, and (3) to close the fistula. Low Anomalies Low anomalies are usually repaired from the perineal approach in the newborn period using a muscle stimulator to precisely determine the location of the sphincter complex. The anteriorly placed anal opening is completely mobilized and transferred to the normal position. After healing, the anal opening must be dilated daily for 35 months to prevent stricture formation and to allow for growth.
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 High Anomalies Traditionally, a high deformity was treated by a three-stage repair consisting of colostomy and mucous fistula formation, a posterior sagittal anorectoplasty 46 weeks later, and closure of the colostomy several months after that. Recently, the staged approach has been challenged and a one-stage repair has been performed by both posterior sagittal and a laparoscopic approaches. Because the anal sphincters are poorly developedespecially the internal sphinctercontinence is most dependent upon a functioning striated muscle complex, which requires conscious voluntary contraction. Care must be taken to preserve the afferent and efferent nerves of the defecation reflex arc as well as the existing sphincter muscles. In all cases, the surgically created anus must be dilated for several months to prevent circumferential cicatrix formation. Prognosis Surgical complications include damage to the nervi erigentes, resulting in poor bladder and bowel control and failure of erection. Division of a rectourethral fistula some distance from the urethra produces a blind pouch prone to recurrent infection and stone formation, while cutting the fistula too short may result in urethral stricture. Erroneously attempting to repair a high anomaly from the perineal approach may leave a persistent rectourinary fistula. An abdominoperineal pull-through procedure performed for a low anomaly invariably produces an incontinent patient who might otherwise have had an excellent prognosis. Injury to the vas deferens and ureter is possible during repair of high anomalies. Patients with imperforate anus tend to have varying degrees of constipation as an inherent part of the defect, believed to be due to poor inherent motility of the rectosigmoid. Patients with low anomalies usually have good sphincter function. Children with high anomalies do not have an internal sphincter that provides continuous, unconscious, and unfatiguing control against soiling. However, in the absence of a lower spine anomaly, perception of rectal fullness, ability to distinguish between flatus and stool, and conscious voluntary control of rectal discharge by contraction of the striated muscle complex can be achieved. When the stools become liquid, sphincter control is usually impaired in patients with high anomalies.

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2.4 OMPHALOCELE
Omphalokel is derived from the Greek language meaning Omphalos = umbilical cord and cele means hernia forms. Omphalokel interpreted as a central defect in the abdominal wall at the umbilicus ring area (umbilical ring) or umbilical ring so that there is a herniation of the abdominal organs of the abdominal cavity but it is still covered by a bag or membrane. Membrane consists of a layer of amnion and peritoneum. This is a midline abdominal wall defect noted in 1:5000 live births. The abdominal viscera (commonly liver and bowel) are contained within a sac composed of peritoneum and amnion from which the umbilical cord arises at the apex and center. When the defect is less than 4 cm, it is termed a hernia of the umbilical cord; when greater than 10 cm, it is termed a giant omphalocele. Associated abnormalities occur in 3070% of infants and include, in descending order of frequency, chromosomal abnormalities (trisomy 13, 18, 21), congenital heart disease (tetralogy of Fallot, atrial septal defect), Beckwith-Wiedemann syndrome (large-for-gestational-age baby; hyperinsulinism; visceromegaly of kidneys, adrenal glands, and pancreas; macroglossia, hepatorenal tumors, cloacal extrophy), pentalogy of Cantrell, and prune belly syndrome (absent abdominal wall muscles, genitourinary abnormalities, cryptorchidism). Small omphaloceles are most often linked to chromosomal defects and Beckwith-Wiedemann syndrome, especially when the liver is not in the hernia sac.

Embryology At the beginning of the 3rd week emrio development, the digestive tract is divided into foregut, midgut and hindgut. This growth is closely linked with the folds embryos (embryonic fold) that play a role in the formation of the abdominal wall. The embryo folds divided into: 1. head folds (cephalic fold) Lies in front of the foregut that forms contain pharynx, esophagus and stomach. Failure development of somatic layer folds head will result in abnormalities of the abdominal wall called mfalokel epigastrial epigastrial area. 34 | P a g e

2.5 GASTROSCHISIS
Gastroschisis is a defect in the abdominal wall that usually occurs to the right of a normal insertion of the umbilical cord . It is believed to arise at the site of involution of the right umbilical vein, though a less popular theory holds there is some evidence that it results from rupture of an omphalocele sac in utero. It is twice as common as omphalocele and the defect is usually smaller. The remnants of the amnion are usually reabsorbed. The skin may continue to grow over the remnants of the amnion, and there may be a bridge of skin between the defect and the cord. The small and large bowel, stomach, and often the fallopian tube/ovary/testis herniate through the abdominal wall defect. Unlike an omphalocele, the liver is virtually never present in the defect. Having been bathed in the amniotic fluid and with compression of the mesenteric blood supply at the abdominal defect, the bowel wall is edematous and has a very thick, shaggy membrane ("peel") covering it. The loops of intestine are usually matted together, and the intestine appears to be abnormally short.

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Complications Since the bowel has not been contained intra-abdominally, the abdominal cavity fails to enlarge, and it frequently cannot accommodate the protuberant bowel. Over 70% of infants with this disorder are premature, but associated anomalies occur in fewer than 10% of cases. Nonrotation of the midgut is present. Associated intestinal atresia occurs in approximately 7% because segments of intestine that have herniated through the defect become infarcted in utero. Treatment & Prognosis Unlike omphalocele, urgent repair is necessary. Small defects may be closed primarily after manually stretching the abdominal cavity. A staged approach is frequently required using a silo as described above (under Omphalocele). As bowel wall edema subsides, the bowel will readily reduce into the abdominal cavity. Reduction is aided by having the infant paralyzed and receiving endotracheal ventilation to relax the abdominal wall and allow it to stretch and accommodate the bowel. When the bowel has been completely reduced (usually 57 days), the silo is removed and the abdominal wall is closed. The death rate for infants with gastroschisis is less than 5%. Poor gastrointestinal function and episodes of sepsis, presumably from compromised bowel, may occur. Prolonged postoperative ileus (more than 2 weeks) is the rule, and total parenteral nutrition is necessary. Primary repair of an associated intestinal atresia is rarely safe and possible. Either a proximal stoma is created or the atretic ends are reduced and repaired 6 weeks later when the intra-abdominal inflammation has subsided

2.6 Undescended Testis (Cryptorchidism)

In the seventh month of gestation, the testicles normally descend into the scrotum. A fibromuscular bandthe gubernaculumextends from the lower pole of the testis to the scrotum, and this band probably acts by guiding the path for descent during differential growth of the fetus rather than by pulling the testes down. Undescended testis (cryptorchidism) is a form of dystopia of the testis that occurs when there is arrested descent and fixation of the position of the testis retroperitoneally, in the inguinal canal, or just beyond the external ring. Continued descent of the testes may progress after birth, but descent comes to a halt before 2 years of age. Another form of dystopia is ectopic testis, in which the gubernaculum may have guided the testis near the pubis, penis, perineum, or medial thigh or to a subcutaneous position superficial to the inguinal canal. In these instances, the testis has descended beyond the external ring of the inguinal canal, and the vascular supply is sufficiently developed so as to pose little difficulty in operative repair. Normal spermatogenesis requires the cooler temperature range provided in the scrotum. When the testis remains undescended and subjected to normal body temperature, degenerative changes in the seminiferous tubules occur in which the lining cells become progressively atrophic and hyalinized, with peritubular fibrosis. The degenerative
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changes begin to occur at 2 years of age. Unless the disorder is corrected, all bilaterally cryptorchid adult males become sterile. The incidence of undescended or partially descended testis is 12% in full-term infants and up to 30% in premature babies. The right testis is affected in 45% of cases, the left testis in 30%, and both testes in 25%. A patent processus vaginalis is present in 95% of patients with cryptorchidism, and approximately 25% develop a clinical hernia. Anomalies associated with cryptorchidism occur in about 15% of cases and include a wide variety of syndromes such as Klinefelter's syndrome, hypogonadotropic hypogonadism, the prune belly syndrome, horseshoe kidneys, renal agenesis or hypoplasia, exstrophy of the bladder, ureteral reflux, gastroschisis, and cloacal exstrophy. Clinical Findings Physical examination demonstrates an "empty hemiscrotum" with absent rugae. Cryptorchidism must be differentiated from a retractilie testis. Because of the very active cremaster of children under 3 years of age and the small size of the testis, the gonad can retract into the external inguinal ring or within the inguinal canalthis is called a retractile testisand it is a variant of normal. The retractile testis can be manually manipulated into the mid to lower scrotum and no therapy is required.

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Treatment Operation is indicated after 1218 months since degenerative changes begin to take place in these testes that may impair spermatogenesis and lead to malignant transformation. Additionally, cryptorchid testes are more susceptible to trauma and torsion, often have an associated inguinal hernia, and may cause adverse psychosocial effects. The incidence of testicular cancer in a cryptorchid testis is 30 times higher than in the normal population and is not lessened by repair. The role of repair is to allow reliable examination for a testicular mass later in life. Orchidopexy is the surgical method for mobilizing the testisbased on the testicular vessels and the vas deferensfrom its ectopic location into the scrotum. When the dystopic testis is not palpable preoperatively, 17% are absent, 33% are intra-abdominal, and 50% are in the inguinal canal or just beyond the inguinal ring. If the testis is not palpable when the child is anesthetized, laparoscopy should be performed before making an inguinal incision. Increasingly, the complete operation (diagnosis and intraabdominal mobilization) is performed laparoscopically. This will allow for identification of an abdominal testis or the diagnosis of an absent testis (usually due to in utero torsion). Very high testes with a short blood supply can be brought into the scrotum by a two-stage repair (dividing the spermatic artery and vein with clips or laser followed by positioning in the scrotum 68 weeks later) based on collateral blood supply via the vas deferens and the gubernaculum. Testes confined in the inguinal canal (25% of cases) can usually be brought into the scrotum in one stage. Ectopic testicles located outside the inguinal canal, such as in the subcutaneous inguinal pouch, occur in over 50% of cases, and the testicular vessels are so well developed that scrotal placement is rarely a problem. The prognosis for fertility following orchidopexy in unilateral maldescent is 80%, whereas fertility after bilateral orchidopexy is about 50%. Due to variable degrees of tension and tenuous blood supply, the testis after an orchidopexy is often smaller than the contralateral one.

2.7 Meckels Diverticulum

Meckel's diverticulum is an outpouching or bulge in the lower part of the small intestine. The bulge is congenital (present at birth) and is a leftover of the umbilical cord. Meckel's diverticulum is the most common congenital defect of the gastrointestinal tract. It occurs in about 2-3 percent of the general population. Meckel's diverticulum occurs in a fetus early in the pregnancy. Normally, the vitelline duct, which connects the growing fetus with the yolk sac, is absorbed into the fetus by the seventh week of the pregnancy. When the vitelline duct is not fully absorbed, a Meckel's diverticulum develops. A Meckel's diverticulum may contain cells from both the stomach and pancreas. Cells from the stomach can secrete acid, which can cause ulcers and bleeding.
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Epidemiology Though about 2-3 percent of the population get Meckel's diverticulum, it causes symptoms in only a small number of those people. People can live their whole lives without ever knowing they have Meckel's diverticulum. The condition is equally common among males and females, but males are two to three times more likely to have complications. Symptoms Symptoms of Meckel's diverticulum usually occur during the first year of a childs life, but can occur into adulthood. Symptoms include:

Gastrointestinal bleeding (which can be seen in the stool) Abdominal pain and cramping Tenderness near the navel (belly button) Obstruction of the bowels, a blockage that keeps the contents of the intestines from passing. This can cause pain, bloating, diarrhea, constipation, and vomiting. Diverticulitis (swelling of the intestinal wall) The most common symptom in children under five is bleeding, which is caused by ulcers that develop in the small intestine when the diverticulum secretes stomach acid. Bowel obstruction occurs more often in older children and adults. Diverticulitis can occur at any age, but is most common in older children. Tumors can occur mainly in adults; these are a rare symptom of Meckel's diverticulum.

If your child exhibits any of the above symptoms, you should see your pediatrician or health care provider immediately. Diagnose Meckel's diverticulum can be difficult to diagnose. Many of the symptoms, such as vomiting, abdominal pain, and tenderness, can occur in several different conditions. If your child's health care provider feels that the combination of symptoms suggests Meckel's diverticulum, he or she will order certain tests. These include:

Technetium scan: This test is a scan. Radioactive technetium is injected into the body. This substance is absorbed by stomach cells in the diverticulum and can be detected by a special camera. Colonoscopy: In this test, a small, flexible tube with a camera on the end is inserted into the rectum and colon to look for blockages and the cause of bleeding.

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Wireless capsule endoscopy: For this test, the patient swallows a small camera that can detect sources of bleeding in the small intestine. If your child is too young to swallow a pill, it can be placed in the stomach while your child is asleep. Treatment

Many adults who have Meckel's diverticulum never have symptoms. They learn they have the condition only after it is noticed during surgery or during tests for another condition. In this case, Meckel's diverticulum usually does not have to be treated. Surgery to remove the diverticulum may be recommended if bleeding develops. During this procedure, the Meckel's diverticulum and surrounding small intestine are removed and the ends of the remaining intestines are sewn together. This can be done either through open abdominal surgery or laparoscopically (a narrow tube with a camera is inserted through a small incision, and the Meckel's diverticulum is repaired through another small incision). Your physician can recommend the best approach based on your childs symptoms, age, and general health.

2.8 HYPOSPADIAS
Hypospadias is a disorder of abnormal development of the anterior urethra where the mouth of the urethra located on the ectopic ventral part of the penis proximal to the penis glands. Estuary of the urethra may also be located in the scrotum or perineum.The more proximal to the penile urethra defects will be experiencing shortening and curvature form called "chordee". In the first century, a surgeon from the Greek Heliodorus and Antilius, first conducting countermeasures for hypospadias . Penis amputation of the distal part of the meatus.Furthermore this way followed by Galen and Paul of Golden Tulip Victoria in the year 200 and 400. Duplay start the modern era in this field in 1874 with the introduction of a detailed reconstruction of the urethra. Now, more than 200 techniques have been made and most are multi-stage reconstruction; consisting of emergency first stage to correctstenotic meatus if necessary and to eliminate the second stage chordee and recurvatum, then the third stage is urehtroplasty. Some of the problems associated with multi-stage technique, namely, requiring multiple operations; common meatus glands do not reach the tip of the penis; frequent urethral stricture or fistula, and in terms of aesthetics considered unfavorable. In 1960, Hinderer introduced a one-stage repair techniques to reduce the complications of multi-stage repair technique. This method is considered as an ideal urethral
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reconstruction in terms of anatomical and functional, in terms of aesthetics is considered better, minimal complications, and reduce the social cost. Incidence Hypospadias occurs 1:300 born baby boy living in the United States. The disorder is limited to the anterior urethra. Administration of estrogen and progestin during pregnancy may increase the incidence. If there are children who hypospadias then found a 20% likelihood that other family members also suffer from hypospadias.Although no familial history but can not find the specific genetic traits. ANATOMY The urethra is the tube that channels urine out of the bladder through the process of micturition. In men these organs function well in distributing the seminal fluid. 9 Urethral equipped with the internal urethral sphincter, located at the border of the bladder and urethra, and external urethral sphincter, located at the border of the anterior and posterior urethra. Urethra anatomically divided into two parts: 1. Anterior urethra, the urethra is covered by the corpus spongiosum penis, consisting of: pars bulbosa, pars pendularis, navikulare fossa, and the external urethral meatus. 2. Posterior urethra, consists of a prostatic urethra, which is part of the urethra that is completed by the prostate gland, and urethra membranasea.

Embryology At 2 weeks old embryos there are only 2 layers of ectoderm and endoderm. Only later formed indentation in the middle of the mesoderm which then migrate to the periphery, separating the ectoderm and endoderm, while at the kaudalnya stick together to form the cloacal membrane. At the beginning of week 6, the bulge formed between umbilical cord and tail are called genital tubercle. Underneath the terbenuk center line at the curve where there are 2 lateral longitudinal folds called genital fold.

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During the 7th week, the genital tubercle will elongate and form the glans. It is the primordial form of the penis when the embryo is male, when she will become the clitoris. If there is agenesis of the mesoderm, the genital tubercle was formed, so that the penis is also not formed. Anterior part of the cloacal membrane, the membrane will rupture and form urogenitalia sinus. While the genital fold to form the sides of the sinus urogenitalia.When the genital fold in the sinus failed to unite urogenitalia, there will be a hypospadias. Etiology The exact cause of hypospadias is not known for certain. Some of the etiology of hypospadias has been put forward, including genetic factors, endocrine, and environmental factors. Approximately 28% of patients found the familial relationship.Enlargement of the genital tubercle and the further development of the phallus and urethra depends on testosterone levels during embryogenesis. If the testes fail to produce the amount of testosterone or if the cells lack androgen receptor genital structure or formation of androgens converting enzyme (5 alpha-reductase) that these are things that are thought to cause the occurrence of hypospadias. CLASSIFICATION Classification of hypospadias is often used is based on the location of the meatus is: 1. Glandular, located on the estuary area of the proximal penis glands penis 2. Coronal, penis estuary lies in the sulcus area coronalia 3. Penile shaft 4. Penoscrotal 5. Perineal.

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DIAGNOSIS Hypospadias diagnosis is usually obvious on inspection examination. Sometimes hypospadias can be diagnosed on prenatal ultrasound examination. If not identified before birth, it can usually be identified on examination after the baby is born. In adults who suffer from hypospadias may complain of difficulty for directing jets of urine. Chordee can cause curved to the ventral penile shaft which can interfere with sexual intercourse. Perineal hypospadias and penoscrotal type causing the patient must micturition in a sitting position, and hypospadias of this type can lead to infertility. Some investigations do that urethtroscopy and cystoscopy to ensure internal sex organs are formed normally. Excretory urography performed to detect the presence or absence of congenital abnormalities of the kidney and ureter. DIAGNOSIS 1. Ambiguous Genitalia 2. Anomaly Genitalia MANAGEMENT Treatment is by surgery hypospadias. Goal is a surgical procedure in hypospadias:5.8
1. Making a straight penis with chordee repair

2. Forming meatusnya urethra and penis that leads to the end (Uretroplasti) 3. To restore the normal aspect of the external genitalia (cosmetics) Surgery is performed based on the state malformasinya. At the distal urethra hypospadias glanular there are not formed, usually without recurvatum, this form can be reconstructed with local flap (eg, procedures Santanelli, Flip flap, MAGPI [meatal advance and glanuloplasty], including the prepuce plasty)

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REFFERENCE

1. R.Sjamsuhidajat, Win de Jong. Buku Ajar Ilmu Bedah. Ed. 2 Jakarta : Penerbit Buku Kedokteran ECG, 2005. 1:293-303 2. Almond, P. Stephen. : in :Arensman, Robert M.; Bambini, Daniel A.; Almond, P. Stephen.; Pediatric Surgery. Georgetown : Landes Bioscience. 2000 3. Pea, Alberto.; Levitt, Marc A.. in : Puri, P.; Hollwarth, M.; Pediatric Surgery. New York : Sringer. 2006 4. Paidas, Charles N.;Levitt, Marc A.; Alberto. in :Oldham, Keith T.; Colombani, Paul M.; Foglia, Robert P.; Skinner, Michael A.; Principles and Practice of Pediatric Surgery, 4th Edition. Lippincott Williams & Wilkins. 2005 5. Dunn, Kelli M. Bullard.; Rothenberger, David A. in : Brunicardi, F. Charles.; Andersen, Dana K.; Billiar, Timothy R.; Dunn, David L.; Hunter, John G.; Matthews, Jeffrey B.; Pollock, Raphael E.; Schwartz's Principles of Surgery, 9th edition. The McGraw-Hill Companies. 2010

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