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Concerns that arise due to abdominal wall defects can be threatening and require immediate and intensive medical care. Some infections may persist for long periods of time and lead to serious complications, such as feeding problems, which can cause the infant to require several surgeries. Since these complications can be severe, it is recommended that parents work closely with a team of physicians throughout the duration of the treatment. After the treatment is completed, children with abdominal wall defects may need additional help. Additional services are usually necessary for with omphalocele and the associated chromosomal abnormalities and birth defects that also arise. Treatments in these cases are long-term and focus on the physical and developmental difficulties that the children will endure. The parents may find this process difficult and need assistance in dealing with the process by a service that is provided by the healthcare team.
Abdominal wall defects are a type of congenital defect that allows the stomach, the intestines, or other organs to protrude through an unusual opening that forms on the abdomen.
During the development of the fetus, many unexpected changes occur inside the womb. Specifically the stomach, intestines, or other organs begin to develop outside the fetus’ abdomen through the abnormal hole in the abdomen and, as development progresses, the abdominal wall eventually encloses these organs. In some cases of defect either the umbilical opening is too oversized or has developed improperly which allows the organs to remain outside or to squeeze through the abdominal wall.
There are two main types of abdominal wall defects that result due to the changes during development. They are omphalocele and gastroschisis. Gastroschisis develops when the abdominal wall does not completely close, and the organs are present outside of the infant’s body. Omphalocele occurs when some of the organs protrude through the muscles of the abdomen in the area surrounding the umbilical cord. Omphalocele can be either minor, with only some of the organs exposed, or severe, with most, if not all of the abdominal organs being exposed.
The sac, which is formed from an outpouching of peritoneum, protrudes in the midline, through the umbilicus (navel).
It is normal for the intestines to protrude from the abdomen, into the umbilical cord, until about the tenth week of pregnancy, after which they return to inside the fetal abdomen.
The omphalocele can be mild, with only a small loop of intestines present outside the abdomen, or severe, containing most of the abdominal organs. In severe cases surgical treatment is made more difficult because the infant's abdomen is abnormally small, having had no need to expand to accommodate the developing organs.
Larger omphalocele are associated with a higher risk of cardiac defects.
There are no signs during pregnancy. About sixty percent of infants with gastroschisis are born prematurely. At birth, the baby will have a relatively small (<4 cm) hole in the abdominal wall, usually just to the right of the belly button. Some of the intestines are usually outside the body, passing through this opening. In rare circumstances, the liver and stomach may also come through the abdominal wall. After birth these organs are directly exposed to air.
Gastroschisis is a birth defect in which the baby's intestines extend outside of the body through a hole next to the belly button. The size of the hole is variable, and other organs including the stomach and liver may also occur outside the baby's body. Complications may include feeding problems, prematurity, intestinal atresia, and intrauterine growth retardation.
The cause is typically unknown. Rates are higher in babies born to mothers who smoke, drink alcohol, or are younger than 20 years old. Ultrasounds during pregnancy may make the diagnosis. Otherwise diagnosis occurs at birth. It differs from omphalocele in that there is no covering membrane over the intestines.
Treatment involves surgery. This typically occurs shortly after birth. In those with large defects the exposed organs may be covered with a special material and slowly moved back into the abdomen. The condition affects about 4 per 10,000 newborns. Rates of the condition appear to be increasing.
The causes of umbilical hernia are congenital and acquired malformation, but an apparent third cause is really a cause of a different type, a paraumbilical hernia.
Omphalocele, also spelled omphalocoele, is a rare abdominal wall defect in which the intestines, liver, and occasionally other organs remain outside of the abdomen in a sac because of failure of normal return of intestines and other contents back to abdominal cavity during around ninth week of intrauterine development.
Omphalocele occurs in 1/4,000 births and is associated with a high rate of mortality (25%) and severe malformations, such as cardiac anomalies (50%), neural tube defect(40%), exstrophy of bladder and Beckwith Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have chromosomal abnormalities. About 30% of infants with an omphalocele have other congenital abnormalities.
A hernia is present at the site of the umbilicus (commonly called a navel or belly button) in newborns; although sometimes quite large, these hernias tend to resolve without any treatment by around the age of 2–3 years. Obstruction and strangulation of the hernia is rare because the underlying defect in the abdominal wall is larger than in an inguinal hernia of the newborn. The size of the base of the herniated tissue is inversely correlated with risk of strangulation (i.e., a narrow base is more likely to strangulate).
Babies are prone to this malformation because of the process during fetal development by which the abdominal organs form outside the abdominal cavity, later returning into it through an opening which will become the umbilicus.
Hernias may be asymptomatic and present only as a bulge of the umbilicus. Symptoms may develop when the contracting abdominal wall causes pressure on the hernia contents. This results in abdominal pain or discomfort. These symptoms may be worsened by the patient lifting or straining.
Internal hernias occur when there is protrusion of an internal organ into a retroperitoneal fossa or a foramen (congenital or acquired) in the abdominal cavity. If a loop of bowel passes through the mesenteric defect, that loop is at risk for incarceration, strangulation, or for becoming the lead point of a small bowel obstruction. Internal hernias can also trap adipose tissue (fat) and nerves. Unlike more common forms of hernias, the trapped tissue protrudes inward, rather than outward.
Mesenteric defects commonly occur in trauma, such as gunshot wounds to the abdomen. In trauma victims, the defect is usually closed, sometimes with resection of the associated bowel, which may have lost its blood supply. Also mesenteric defects are intentionally created in the Roux-en-Y gastric bypass procedure, being classically known as a Petersen's hernia. The mesenteric defect in such cases, called "Petersen's defect", is located between the transverse colon and the mesentery of the alimentary limb (the segment of the jejunum from the jejunojejunostomy until the connection with the proximal segment of the stomach) at the level of the jejunojejunostomy.
Internal hernias are difficult to identify in women, and misdiagnosis with endometriosis or idiopathic chronic pelvic pain is very common. One cause of misdiagnosis that when the woman lies down flat on an examination table, all of the medical signs of the hernia disappear. The hernia can typically only be detected when symptoms are present, so diagnosis requires positioning the woman's body in a way that provokes symptoms.
Both internal hernias and umbilical hernias are more common in women than men.
By far the most common hernias develop in the abdomen, when a weakness in the abdominal wall evolves into a localized hole, or "defect", through which adipose tissue, or abdominal organs covered with peritoneum, may protrude. Another common hernia involves the spinal discs and causes "sciatica". A hiatus hernia occurs when the stomach protrudes into the "mediastinum" through the esophageal opening in the diaphragm.
Hernias may or may not present with either pain at the site, a visible or palpable lump, or in some cases more vague symptoms resulting from pressure on an organ which has become "stuck" in the hernia, sometimes leading to organ dysfunction. Fatty tissue usually enters a hernia first, but it may be followed or accompanied by an organ.
Hernias are caused by a disruption or opening in the fascia, or fibrous tissue, which forms the abdominal wall. It is possible for the bulge associated with a hernia to come and go, but the defect in the tissue will persist.
Symptoms and signs vary depending on the type of hernia. Symptoms may or may not be present in some inguinal hernias. In the case of reducible hernias, a bulge in the groin or in another abdominal area can often be seen and felt. When standing, such a bulge becomes more obvious. Besides the bulge, other symptoms include pain in the groin that may also include a heavy or dragging sensation, and in men, there is sometimes pain and swelling in the scrotum around the testicular area.
Irreducible abdominal hernias or incarcerated hernias may be painful, but their most relevant symptom is that they cannot return to the abdominal cavity when pushed in. They may be chronic, although painless, and can lead to strangulation (loss of blood supply), obstruction (kinking of intestine), or both. Strangulated hernias are always painful and pain is followed by tenderness. Nausea, vomiting, or fever may occur in these cases due to bowel obstruction. Also, the hernia bulge in this case may turn red, purple or dark and pink.
In the diagnosis of abdominal hernias, imaging is the principal means of detecting internal diaphragmatic and other nonpalpable or unsuspected hernias. Multidetector CT (MDCT) can show with precision the anatomic site of the hernia sac, the contents of the sac, and any complications. MDCT also offers clear detail of the abdominal wall allowing wall hernias to be identified accurately.
Complications may arise post-operation, including rejection of the mesh that is used to repair the hernia. In the event of a mesh rejection, the mesh will very likely need to be removed. Mesh rejection can be detected by obvious, sometimes localized swelling and pain around the mesh area. Continuous discharge from the scar is likely for a while after the mesh has been removed.
A surgically treated hernia can lead to complications such as inguinodynia, while an untreated hernia may be complicated by:
- Inflammation
- Obstruction of any lumen, such as bowel obstruction in intestinal hernias
- Strangulation
- Hydrocele of the hernial sac
- Hemorrhage
- Autoimmune problems
- Irreducibility or Incarceration, in which it cannot be reduced, or pushed back into place, at least not without very much external effort. In intestinal hernias, this also substantially increases the risk of bowel obstruction and strangulation.
A Richter's hernia occurs when the antimesenteric wall of the intestine protrudes through a defect in the abdominal wall. This is discrete from other types of abdominal hernias in that only one intestinal wall protrudes through the defect, such that the lumen of the intestine is incompletely contained in the defect, while the rest remains in the peritoneal cavity. If such a herniation becomes necrotic and is subsequently reduced during hernia repair, perforation and peritonitis may result. A Richter's hernia can result in strangulation and necrosis in the absence of intestinal obstruction. It is a relatively rare but dangerous type of hernia.
Richter's hernia have also been noted in laparoscopic port-sites, usually when the fascia is not closed for ports larger than 10mm. A high index of suspicion is required in the post operative period as this sinister problem can closely mimic more benign complications like port-site haematomas.
Treatment is resection and anastomosis.
Mortality increases with delay in surgical intervention.
A hernia is caused by the protrusion of a viscus (in the case of groin hernias, an intraabdominal organ) through a weakness in the containing wall. This weakness may be inherent, as in the case of inguinal, femoral and umbilical hernias. On the other hand, the weakness may be caused by surgical incision through the muscles of the abdominal/thoracic wall. Hernias occurring through these are called incisional hernias.
Femoral hernias occur just below the inguinal ligament, when abdominal contents pass through a naturally occurring weakness called the femoral canal. Femoral hernias are a relatively uncommon type, accounting for only 3% of all hernias. While femoral hernias can occur in both males and females, almost all of them develop in women because of the wider bone structure of the female pelvis. Femoral hernias are more common in adults than in children. Those that do occur in children are more likely to be associated with a connective tissue disorder or with conditions that increase intra-abdominal pressure. Seventy percent of pediatric cases of femoral hernias occur in infants under the age of one.
A reducible femoral hernia occurs when a femoral hernia can be pushed back into the abdomen, either spontaneously or with manipulation, but most likely, spontaneously. This is the most common type of femoral hernia and is usually painless.
An irreducible femoral hernia occurs when a femoral hernia becomes stuck in the femoral canal. This can cause pain and a feeling of illness.
An obstructed femoral hernia occurs when a part of the intestine becomes intertwined with the hernia, causing an intestinal obstruction. The obstruction may grow and the hernia can become increasingly painful. Vomiting may also result.
A strangulated femoral hernia occurs when a femoral hernia blocks blood supply to part of the bowel - the loop of bowel loses its blood supply. Strangulation can happen in all hernias, but is more common in femoral and inguinal hernias due to their narrow "necks". Nausea, vomiting, and severe abdominal pain may occur with a strangulated hernia. This is a medical emergency. A strangulated intestine can result in necrosis (tissue death) followed by gangrene (tissue decay). This is a life-threatening condition requiring immediate surgery.
A femoral hernia may be either reducible or irreducible, and each type can also present as either (or both) obstructed or strangulated.
The term incarcerated femoral hernia is sometimes used, but may have different meanings to different authors and physicians. For example: "Sometimes the hernia can get stuck in the canal and is called an irreducible or incarcerated femoral hernia." "The term 'incarcerated' is sometimes used to describe an [obstructed] hernia that is irreducible but not strangulated. Thus, an irreducible, obstructed hernia can also be called an incarcerated one." "Incarcerated hernia: a hernia that cannot be reduced. May lead to bowel obstruction but is not associated with vascular compromise."
A hernia can be described as reducible if the contents within the sac can be pushed back through the defect into the peritoneal cavity, whereas with an incarcerated hernia, the contents are stuck in the hernia sac.
However, the term "incarcerated" seems to always imply that the femoral hernia is at least irreducible.
Other birth defects may co-exist, particularly in the heart, but sometimes also in the anus, spinal column, or kidneys. This is known as VACTERL association because of the involvement of Vertebral column, Anorectal, Cardiac, Tracheal, Esophageal, Renal, and Limbs. It is associated with polyhydramnios in the third trimester.
The syndrome has five characteristic findings:
- Omphalocele
- Anterior diaphragmatic hernia
- Sternal cleft with or without ectopia cordis
- Diaphragmatic pericardium defects (no diaphragmatic pericardium)
- Intracardiac defect: ventricular septal defect, diverticulum of the left ventricle, Tetralogy of Fallot
The diagnosis of congenital diaphragmatic eventration is used when there is abnormal displacement (i.e. elevation) of part or all of an otherwise intact diaphragm into the chest cavity. This rare type of CDH occurs because in the region of eventration the diaphragm is thinner, allowing the abdominal viscera to protrude upwards.
It involves three major defects:
- A failure of the diaphragm to completely close during development
- Herniation of the abdominal contents into the chest
- Pulmonary hypoplasia
Incisional hernias are usually caused by a weakness of the surgical wounds, which may be caused by hematoma, seroma, or infection, all of which result in decreased wound healing. They may also be caused by increased intra-abdominal pressure due to a chronic cough (as in COPD), constipation, urinary obstruction (as in BPH), pregnancy, or ascites. They can also result from poor surgical technique.
Any attempt at feeding could cause aspiration pneumonia as the milk collects in the blind pouch and overflows into the trachea and lungs. Furthermore, a fistula between the lower esophagus and trachea may allow stomach acid to flow into the lungs and cause damage. Because of these dangers, the condition must be treated as soon as possible after birth.
Prune-belly triad consists of: Cryptorchidism, abdominal wall defects and genitourinary defects:
- A partial or complete lack of abdominal wall muscles. There may be wrinkly folds of skin covering the abdomen.
- Cryptorchidism (undescended testicles) in males
- Urinary tract abnormality such as unusually large ureters, distended bladder, accumulation and backflow of urine from the bladder to the ureters and the kidneys (vesicoureteral reflux)
Other Symptoms include:
- Frequent urinary tract infections due to the inability to properly expel urine.
- Ventricular septal defect
- Malrotation of the gut
- Club foot
- Later in life, a common symptom is post-ejaculatory discomfort. Most likely a bladder spasm, it lasts about two hours.
- Musculoskeletal abnormalities include pectus excavatum, scoliosis, and congenital joint dislocations including the hip. Diagnosis of prune belly syndrome necessitates a thorough orthopaedic evaluation because of the high prevalence of associated musculoskeletal abnormalities.
A scaphoid abdomen (sucked inwards) may be the presenting symptom in a newborn.
Hernias present as bulges in the groin area that can become more prominent when coughing, straining, or standing up. They are rarely painful, and the bulge commonly disappears on lying down. Mild discomfort can develop over time. The inability to "reduce", or place the bulge back into the abdomen usually means the hernia is 'incarcerated' which requires emergency surgery.
Significant pain is suggestive of strangulated bowel (an incarcerated indirect inguinal hernia).
As the hernia progresses, contents of the abdominal cavity, such as the intestines, liver, can descend into the hernia and run the risk of being pinched within the hernia, causing an intestinal obstruction. If the blood supply of the portion of the intestine caught in the hernia is compromised, the hernia is deemed "strangulated" and gut ischemia and gangrene can result, with potentially fatal consequences. The timing of complications is not predictable.
Clinically, incisional hernias present as a bulge or protrusion at or near the area of a surgical incision. Virtually any prior abdominal operation can develop an incisional hernia at the scar area (provided adequate healing does not occur due to infection), including large abdominal procedures such as intestinal or vascular surgery, and small incisions, such as (appendix removal or abdominal exploratory surgery). While incisional hernias can occur at any incision, they tend to occur more commonly along a straight line from the xiphoid process of the sternum straight down to the pubis, and are more complex in these regions. Hernias in these areas have a high rate of recurrence if repaired via a simple suture technique under tension. For this reason, it is especially advised that these be repaired via a tension free repair method using a synthetic mesh.
They typically present when standing erect as a groin lump or bulge, which may differ in size during the day, based on internal pressure variations of the intestine. The bulge or lump typically is smaller or may not be visible in a prone position.
They may or may not be associated with pain. Often, they present with a varying degree of complication ranging from irreducibility through intestinal obstruction to frank gangrene of contained bowel. The incidence of strangulation in femoral hernias is high. A femoral hernia has often been found to be the cause of unexplained small bowel obstruction.
The obvious finding may be a lump in the groin. Cough impulse is often absent and should not be relied on solely when making a diagnosis of femoral hernia. The lump is more globular than the pear shaped lump of the inguinal hernia. The bulk of a femoral hernia lies below an imaginary line drawn between the anterior superior iliac spine and the pubic tubercle (which essentially represents the inguinal ligament) whereas an inguinal hernia starts above this line. Nonetheless, it is often impossible to distinguish the two preoperatively.
Regardless of cause, volvulus causes symptoms by two mechanisms:
- Bowel obstruction manifested as abdominal distension and bilious vomiting.
- Ischemia (loss of blood flow) to the affected portion of intestine.
Depending on the location of the volvulus, symptoms may vary. For example, in patients with a cecal volvulus, the predominant symptoms may be those of a small bowel obstruction (nausea, vomiting and lack of stool or flatus), because the obstructing point is close to the ileocecal valve and small intestine. In patients with a sigmoid volvulus, although abdominal pain may be present, symptoms of constipation may be more prominent.
Volvulus causes severe pain and progressive injury to the intestinal wall, with accumulation of gas and fluid in the portion of the bowel obstructed. Ultimately, this can result in necrosis of the affected intestinal wall, acidosis, and death. This is known as a closed loop obstruction because there exists an isolated ("closed") loop of bowel. Acute volvulus often requires immediate surgical intervention to untwist the affected segment of bowel and possibly resect any unsalvageable portion.
Volvulus occurs most frequently in middle-aged and elderly men. Volvulus can also arise as a rare complication in persons with redundant colon, a normal anatomic variation resulting in extra colonic loops.
Sigmoid volvulus is the most-common form of volvulus of the gastrointestinal tract. and is responsible for 8% of all intestinal obstructions. Sigmoid volvulus is particularly common in elderly persons and constipated patients. Patients experience abdominal pain, distension, and absolute constipation.
Cecal volvulus is slightly less common than sigmoid volvulus and is associated with symptoms of abdominal pain and small bowel obstruction.
Volvulus can also occur in patients with Duchenne muscular dystrophy due to the smooth muscle dysfunction.