Definition

Malrotation of the gastrointestinal tract is a rare congenital condition where the intestines or other parts of the digestive system do not rotate properly within the abdomen. This disorder arises from incomplete development of the digestive tract during fetal development, typically around the 10th week of pregnancy. The failure to rotate results in some sections of the intestines being incorrectly positioned. Although this condition can lead to complications, early detection and treatment can effectively manage malrotation.

Often asymptomatic, malrotation is frequently discovered when an infant is about one year old or when volvulus—a twisting of the intestine—occurs. Volvulus can lead to intestinal obstruction, disrupting normal digestion. This twist cuts off blood supply to the affected section, potentially causing tissue death in that area. Volvulus is an emergency requiring immediate surgical intervention. Infants who do not develop volvulus can grow and develop normally after treatment.

Malrotation affects approximately 1 in 500 births in the United States, and it is commonly diagnosed within the first year of life. Symptomatic malrotation is rarer, occurring in about 1 in 6,000 infants. Approximately 30-60% of cases are diagnosed during the first week of life. Both boys and girls can be affected by malrotation, but in the first month, boys are more likely to show symptoms.

Causes

The intestines, being the longest organ in the digestive system, can measure over 6 meters (20 feet) when fully extended. However, because of their folded configuration, they fit into the small abdominal cavity.

During fetal development, the intestines initially form as a simple tube connecting the stomach and rectum (the lower part of the large intestine leading to the anus). As development progresses, the intestines connect to the umbilical cord, which supplies the fetus with nutrients. Later, as pregnancy approaches the end of the first trimester, the intestines return from the umbilical cord to the abdominal cavity. If they fail to rotate properly during this process, malrotation results.

Some children with intestinal malrotation may have other associated conditions, including:

• Other gastrointestinal abnormalities
• Heart defects
• Abnormal development of organs such as the liver and spleen

The exact cause of intestinal malrotation remains unknown, though it is thought to involve genetic factors or mutations. More research is required to understand these causes fully.

Risk Factor

Malrotation is typically diagnosed in infancy, with around 80% of cases being identified within the first month of life. While the specific risk factors for malrotation remain uncertain, the condition affects both boys and girls, though boys tend to be more symptomatic in their first month. Malrotation can also occur in conjunction with other congenital or intestinal abnormalities.

In adults, complications such as intestinal twisting (volvulus) or sigmoid volvulus—where the large intestine twists above the rectum—can develop. The following factors may increase the risk of such complications:

• Intestinal malrotation
• Adhesions or scar tissue between abdominal organs from prior surgery, injury, or infection
• Congenital conditions, such as Hirschsprung’s disease
• A colon that is not properly attached to the abdominal wall
• Chronic constipation
• Pregnancy
• Male gender
• Age over 60
• Living in a nursing home or long-term care facility
• Neuropsychiatric disorders, including Parkinson’s disease or multiple sclerosis
• Muscular dystrophy

Volvulus in adults generally occurs in the sigmoid colon and cecum, while in children it more commonly affects the small intestine and stomach. Though volvulus is often associated with an underlying condition, it can sometimes occur without an apparent cause.

Symptoms

If symptoms arise, one of the early signs of malrotation is abdominal pain and cramps caused by the intestine's inability to move food past the blockage. Infants with malrotation often show distinctive signs, such as pulling their legs toward their body while crying, then calming down after 10-15 minutes, only to cry again. If your baby shows these symptoms, consult a pediatrician immediately.

Other symptoms of malrotation include:

• Repeated vomiting, often green or greenish-yellow
• A swollen and tight abdomen
• Decreased appetite
• Reduced or absent urine output due to fluid loss
• Sluggish bowel movements
• Bloody stools
• Fever
• The baby may appear pale and lethargic

Diagnosis

After a thorough physical examination, the pediatrician may order further tests to evaluate the position of the intestines and assess whether they are twisted or obstructed. Common imaging tests include:

• Abdominal X-rays, which can reveal signs of intestinal obstruction.
• Barium enema with X-rays, where a liquid containing barium is inserted into the intestines via the anus to enhance visibility during the X-ray.
• CT scans, which provide detailed images of the intestines, helping to detect blockages or malrotation.

Management

Malrotation, particularly when it results in volvulus (twisting of the intestines), is a medical emergency and is considered life-threatening. Surgery is usually required to correct the problem.

Treatment starts with intravenous (IV) fluids to prevent dehydration, and the baby may receive antibiotics to prevent infection. Sedation will be administered to keep the baby asleep during surgery.

During the operation, the surgeon opens the baby's abdomen to examine the intestines. If the intestines are healthy, they are repositioned within the abdominal cavity. However, if there is damage to the intestines, the affected section will be removed. In cases where a large portion of the intestine is removed, reattaching the remaining sections may not be possible, and a colostomy may be necessary.

A colostomy involves creating a stoma (opening) in the abdomen for stool to exit the body. The stool is collected in an external bag. Colostomies can be temporary or permanent, depending on the extent of the intestinal damage.

Complications

Malrotation can lead to several complications, including:

• Short-bowel syndrome, which is the most common complication of malrotation with volvulus. This syndrome impairs the intestines' ability to absorb nutrients, requiring long-term IV nutrition.
• Ladd's band, a band of connective tissue that can form in the duodenum, obstructing blood flow to other digestive areas.
• Intestinal infection, perforation, tissue death, and peritonitis, which is inflammation of the abdominal lining.
• Persistent digestive issues, such as constipation, recurrent diarrhea, abdominal pain, and vomiting.
• Death, which can occur due to peritonitis, complications from long-term malnutrition, or sepsis. Fatalities are most common in children under one year old.

Surgery to correct volvulus may also result in complications, such as:

• Recurrence of volvulus, especially if a conservative surgical procedure was performed.
• Leakage at the site where the intestines were reconnected.
• Infection of the surgical wound, which can lead to sepsis in severe cases.
• Pelvic abscess, a collection of pus in the pelvic area.

Prevention

There is no known way to prevent malrotation. However, early diagnosis and timely treatment can help avoid severe complications.

In cases of volvulus, surgery should be performed immediately to prevent intestinal damage. The child may also receive IV fluids to prevent dehydration and antibiotics to prevent infection.

When to See a Doctor?

If your baby or any family member exhibits symptoms of malrotation, such as abdominal pain, vomiting, or swelling, seek medical attention immediately by visiting the emergency unit for proper evaluation and prompt treatment.

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