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Microvillus inclusion disease is an extremely rare intestinal disorder. You might also hear doctors refer to it with other names, such as:
Signs of microvillus inclusion disease usually show up within hours or days after birth; however, sometimes the symptoms show up later (around two months after birth) and/or are less severe.
A baby might have severe, watery diarrhea that doesn't go away, and not be able to absorb nutrients. This is called malabsorption; in this disease, malabsorption is caused by certain cells from the wall of the small intestine not having developed completely (hypoplasia) and/or cells' breaking down before they should (atrophy). Without enough important nutrients and water, a baby can become severely dehydrated, suffer from malnutrition, and become unable to grow and gain weight normally (failure to thrive).
Microvillus inclusion disease is inherited as an autosomal recessive genetic trait. This means that the disease is carried by a gene on a chromosome which is not involved in determining a person's sex. Both boys and girls can be affected, although it does seem to appear in girls more often. Because this particular gene is recessive, both parents must carry it in order to pass the disease on to their child. In some families, more than one child is affected. People who have a family history of microvillus inclusion disease can benefit from genetic counseling when they begin to plan for children, but there is currently no way to predict or prevent microvillus inclusion disease.
If the doctors think your child might have microvillus inclusion disease, they will act quickly to diagnose it or rule it out. They might first test your child's bowel movements for levels of different nutrients that would not be absorbed in the intestine due to microvillus inclusion disease.
The only way to tell for sure if a child has microvillus inclusion disease is by examining a tiny portion of his or her small intestine under a microscope (electron microscopy). The part of the intestine doctors usually look at to find signs of microvillus inclusion disease is called the duodenum, which the first section after the stomach. To look at the tissue, doctors have to take it out, using procedure called a small intestine biopsy (also called "small bowel biopsy"). This procedure often takes just a few minutes and causes very little pain. For a sample this small, doctors can usually use a flexible viewing tube called an endoscope. This tube is swallowed through the mouth, and into the stomach.
Using electron microscopy, doctors can detect the main features of microvillus inclusion disease, which are tiny but distinct differences in the cells of the small intestine.
In the past, different drugs have been tried to stop or counteract the severe diarrhea, but none of them has proven effective. Babies with microvillus inclusion disease rely on nutritionally balanced formulas given directly into the veins (intravenously) – known as total parenteral nutrition (TPN) – to get enough nourishment. TPN can help stabilize a baby's health, but often it is not a good long-term solution. Over time, TPN may cause liver damage and increase the risk of infections. When TPN produces these kinds of complications, intestinal transplantation is often the best option.
Learn more about other Intestine Transplant Disease States.
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
Children’s Hospital of Pittsburgh of UPMC
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
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