Intestinal malrotation is a defect that occurs at the 10th week of gestation. During this stage of development, the intestines normally migrate back into the abdominal cavity following a brief period where they grow in length outside of the abdomen. As the intestine returns to the abdomen, it makes two rotations and becomes fixed into its normal position, with the small bowel centrally located in the abdomen and the colon (large intestine) draping around the top and sides of the small intestine. When rotation is incomplete and intestinal fixation does not occur appropriately, this creates an abnormality known as intestinal malrotation.

With intestinal malrotation, the large intestine is located to the left of the abdomen, while the small intestine is on the right of the abdomen. The cecum (beginning of large intestine) and the appendix, which are normally attached to the right lower abdominal wall, are unattached and located in the upper abdomen. In many cases, abnormal tissue referred to as Ladd's bands attaches the cecum to the duodenum (beginning of small intestine) and may create a blockage in the duodenum.

In patients with malrotation, the blood supply to the intestine is channeled through a very narrow supportive structure (mesentery). Since the intestine is not properly fixated, the bowel may twist on its own blood supply; this condition is termed volvulus. When volvulus involves the entire small bowel, it is referred to as mid-gut volvulus. This can result in the loss of most of the intestine. In some case, it may also result in death.

A number of other acute and chronic signs of disease are related to intestinal malrotation and lack of fixation. These include chronic abdominal pain, malabsorption and malnutrition, and subsequent growth disturbances.

Incidence

Intestinal malrotation occurs in one of every 500 live births in the United States. Up to 40% of patients with malrotation show signs of the disease within the first week of life. By 1 month of age, 50% to 60% are diagnosed. 75% to 90% percent of patients are diagnosed by age 1. The remaining cases are diagnosed after age 1 and even into adulthood.

Risk Factors

While more males exhibit symptoms during the first month of life, malrotation occurs equally in males and females.

Up to 70% of children with intestinal malrotation also have another defect that is present at birth (congenital), including:

• Abdominal wall defects and digestive system abnormalities, including gastroschisis, omphalocele, congenital diaphragmatic hernia, intestinal atresia, Hirschsprung's disease, gastroesophageal reflux, intussusception and anorectal malformations
• Heart defects
• Abnormalities of the liver or spleen

Signs and Symptoms

In some people with malrotation, symptoms never occur, and a diagnosis is never made. In others, symptoms may develop at any age.

When the intestine is obstructed by Ladd's bands or when the blood supply is twisted, symptoms may include:

• Vomiting bile (greenish-yellow digestive fluid)
• Abdominal pain (in infants, this may result in drawing up the legs)
• Abdominal swelling
• Rapid heart rate
• Shock
• Rapid breathing
• Bloody bowel movements

Diagnosis

When medical history and physical examination indicate a suspicion of malrotation and volvulus, patients must undergo various blood tests and diagnostic imaging studies to evaluate the position of the intestine and to determine whether there is intestinal blockage or twisting. These tests include:

• Abdominal X-ray – This may reveal intestinal obstruction.
• Upper GI test – This procedure examines the small intestine for abnormalities and establishes the position of the jejunum (middle section of small intestine) in relation to the spine and stomach. A radio-opaque contrast solution is swallowed or placed down a nasogastric tube, which goes from the nose into the stomach. This substance coats the inside of the stomach and intestine so they will show up on X-rays. These X-rays may show malrotation and / or duodenal obstruction, volvulus or other problems.
• Barium enema – This procedure is performed to examine the large intestine and uses the same radiographic contrast agent mentioned above. Barium is given into the rectum as an enema. X-rays may show that the large intestine is not in normal position.
• Abdominal ultrasound – This is a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal organs. Ultrasounds are used to view internal organs as they function and to assess blood flow through various vessels.

Treatment

Malrotation of the intestine is usually not evident until the intestine becomes twisted or obstructed by Ladd's bands, resulting in symptoms. Since a significant portion of the functional intestine can die with a volvulus, this is considered life-threatening.

Children are started on intravenous (IV) fluids to prevent dehydration, and antibiotics are administered to prevent infection. A nasogastric (NG) tube is placed from the nose into the stomach to prevent gas buildup in the stomach.

Surgical repair is performed as soon as possible. The bowel is untwisted and checked carefully for damage. Ideally, circulation to the intestine is restored after it is untwisted, allowing it to regain its pink coloration. If the intestine is healthy, an operation called the Ladd's procedure is performed to repair the malrotation. Since the appendix is not in the correct location, and it would be difficult to diagnose a future appendicitis, it is usually removed at this time.

If the blood supply to the intestine remains in question after untwisting, another operation is usually performed within 24 to 48 hours to re-evaluate it and determine the extent of bowel necrosis (death). If it appears that a section of intestine is severely damaged beyond recovery, this damaged portion is removed. This sometimes necessitates surgically creating a small bowel stoma (opening) through the abdominal wall to the skin. This diverts body waste into a collection bag, allowing the small bowel to heal. After several weeks, an operation may be performed to reconnect the bowel to the large intestine.

Long-Term Outlook

When surgical repair is performed before intestinal damage occurs, there are generally no long-term problems. However, removal of a large portion of intestine due to intestinal injury can severely affect the digestive process. With this operation, the normal intestinal process of absorbing nutrients and fluids cannot occur. Nutrition may need to be supplemented with long-term intravenous high-calorie solutions. This type of supplemental feeding is referred to as total parenteral nutrition (TPN). If the bowel does not recover its function and long-term TPN is necessary, children are at risk for developing chronic liver disease.

Mortality rates substantially increase with the presence of necrotic (dead) bowel at surgery and the presence of other co-existing abnormalities.