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Pediatric Short Bowel Syndrome (SBS) and Other GI Disorders

Section 1: Basics of Short Bowel Syndrome

What is the basic anatomy and physiology of the gastrointestinal (GI) tract and its importance for short bowel patients?


Step 1: The gastrointestinal tract begins at the mouth where mechanical digestion begins. Saliva in the mouth functions to moisten and lubricate food before swallowing and to partially digest food particles.

Step 2: Food moves from the mouth, down the esophagus, and into the stomach.

Step 3: In the stomach, glands secrete hydrochloric acid, which helps digest food and destroy bacteria that enter the body with the food. Little nutrient absorption occurs in the stomach. The digested particulate matter, known as chyme, moves from the stomach into the first portion of the small intestine, the duodenum.

Step 4: Small Intestine

It is in the small intestine where most of the digestion and absorption of food occurs. Special enzymes breakdown carbohydrates, fat, and proteins into smaller components that the intestinal cells can absorb and use throughout the body for nutrients. The pancreas and liver also secrete substances into the small intestine to aid in the digestion of substances.

The small intestine has 3 parts:

1. Duodenum: Main section for absorption of iron, calcium, and folate. This is also the section that bile and pancreatic enzymes enter the intestine to aid in digestion.

2. Jejunum: Major section of nutrient absorption.

3. Ileum: Major section of nutrient absorption. This is the only section of intestine that can absorb vitamin B12. If your child does not have his or her ileum, which is common in short bowel patients, they will require vitamin B12 supplementation.

Step 5: Food passes from the ileum through the ileocecal valve and enters the colon. The colon serves two main roles:

1. Acts as a storage chamber for undigested material.

2. Functions to reabsorb water.

Step 6: When initiated, contractions of the rectum and relaxation of the anal sphincter cause defecation, and stool is deposited.

Digestion and absorption rely on many components of proper contractions, enzymes, and cell function. If any of these functions are impaired, then the process may not proceed as planned, as seen in patients with intestinal failure.

For a handy graphic and overview of this process, find our 'Overview of Digestion' handout below.




What is short bowel syndrome (SBS)?


Short bowel syndrome (SBS) results when the body is not able to properly absorb and digest food normally because a large length of the small intestine is missing or non-functional. This results in the inability of your child to have proper growth and development.




What are general signs and symptoms associated with short bowel syndrome?


  • Diarrhea
  • Dehydration
  • Poor weight gain, growth and developmental delays
  • Recurrent vomiting
  • Fatigue
  • Food sensitivities
  • Kidney stones (due to high oxalate levels)
  • Ulcers (due to gastric hypersecretion of acid, see SBS complications section)
  • Heartburn
  • Gallstones

Symptoms will vary based on the underlying diagnosis. The above symptoms are in relation to malnutrition and malabsorption.




What is intestinal failure (IF)?


Short bowel syndrome may lead to intestinal failure. Intestinal Failure (IF) develops when your child's small intestine does not provide the necessary long term nutrition needed to sustain a normal life. This results in the need for additional long term nutrition to be delivered through large veins in the body. This is called "Total Parenteral Nutrition" or "TPN."




What are causes of short bowel syndrome in children?


In some cases of short bowel, your baby is born with the condition:

  • Gastroschisis
  • Intestinal Atresia
  • Volvulus or Malrotation
  • Hirschsprung's Disease
  • Meconium Ileus
In other cases, your child may have a disease that requires them to have extensive surgical resection of their bowel, resulting in short bowel:
  • Necrotizing Enterocolitis (NEC)
  • Radiation Enteritis
  • Trauma
  • Crohn's Disease
For more information on these conditions, please visit section two, GI Disorders, above.




What are the main goals in the management of children with short bowel syndrome?


1. Maximize the function of the existing intestinal tract. This includes using intestinal rehabilitation therapies and the intestine's ability to adapt, known as intestinal adaptation. See intestinal rehabilitation for more information. 2. Optimize nutritional status to ensure appropriate growth and development. 3. Prevent complications, whenever possible. 4. Reduce or eliminate the need for parenteral nutrition (PN).




How is short bowel syndrome treated?


There are many ways to help children with short bowel syndrome and reach the intended goals. Every child will require a complete clinical team. In general, treatment includes: 1. Initial Nutrition Management and Stabilization: This is usually with parenteral nutrition (PN) and/or enteral nutrition. See our section on PN and enteral nutrition for more information. 2. Intestinal Rehabilitation: This takes place overtime and utilizes multiple methods, including diet, medications, and sometimes surgical procedures. See our intestinal rehabilitation section for a comprehensive overview.




What are 3 common types of ostomies seen in short bowel patients?


1. Jejunostomy: This is when the second portion of the small intestine, the jejunum, is brought to the abdominal wall and empties outside of the body into a bag. 2. Ileostomy: This is when the third portion of the small intestine, the ileum, is brought to the abdominal wall and empties outside of the body into a bag. 3. Colostomy: This is when the colon is brought through the abdominal wall and empties outside of the body into a bag. To read more about ostomies, please visit our page here or go to the United Ostomy Associations of America website.





Section 3: Short Bowel Syndrome Complications

What are complications associated with short bowel syndrome?


1. Malnutrition: This is from the intestine's inability to absorb the nutrient's needed to grow and develop properly. 2. Electrolyte Imbalances and Dehydration: This is due to high output and diarrhea. 3. Vitamin and Mineral Deficiencies 4. Small Intestinal Bacterial Overgrowth (SIBO) 5. Gastric Hypersecretion 6. Kidney stones 7. Steatorrhea (fat in stool) 8. Gallstones




Dehydration in Short Bowel Children


It is common for children with short bowel to have high output and diarrhea which can lead to dehydration. Signs and symptoms of dehydration in children:

  • Excessive thirst
  • Dark or decreased urine output
  • Lethargic or drowsy
  • Dry mouth or thick spit
  • Few or no tears when crying
  • Irritability
  • Sunken eyes or cheeks
Dehydration can lead to electrolyte abnormalities which can be serious. If your child is experiencing any of these signs or symptoms you should contact your team immediately.




Electrolyte Imbalances


Electrolytes are electrically charged minerals and compounds that help your child's body do much of its work. What are some of the most important electrolytes?

  • Sodium (Na+)
  • Potassium (K+)
  • Magnesium (Mg +2)
  • Calcium (Ca +2)
  • Chloride (Cl-)
  • Phosphorous/Phosphate (PO4-)
With excessive diarrhea, electrolyte imblances can occur very quickly and are very serious. Diagnosis: A simple blood test can check your child's electrolyte values. Treatment: If your child requires replenishment of electrolytes, your team may reccomend certain oral rehydration solutions, intravenous (IV) fluids, or IV supplements to bring levels back to normal. If your child is on total parenteral nutrition (TPN), your team may be able to make adjustments in the TPN formula.




Kidney Stones


  • If your child has short bowel syndrome but still has a colon remaining, they may be at risk for forming oxalate-calcium kidney stones.
  • Oxalate is a substance that is found in plant-based foods. When these foods are broken down, oxalate is released as a by-product. Normally, oxalate binds to calcium in the intestine and is pooped out.
  • In kids with short bowel who have fat malabsorption, the fat binds with the calcium, leaving the oxalate free in the colon, where it is reabsorbed into the bloodstream.
  • Back in the body, the oxalate reaches the kidney, binds with calcium, and can form kidney stones.
Prevention includes avoiding foods high in oxalate, such as:
  • Tea
  • Chocolate
  • Nuts
  • Leafy green vegetables
  • Berries
  • Wheat germ/bran
Other ways to help avoid kidney stones:
  • Stay hydrated.
  • Increase the amount of calcium in the diet, if tolerated.
  • Take calcium supplements if recommended by your team.
  • Avoid oxalate-rich foods.




Vitamin and Mineral Deficiencies


Vitamin and mineral deficiencies will vary depending on the length and location of intestinal resection/ portion of your child's intestine that is missing. In particular, if the ileum is missing, the absorption of fat-soluble vitamins A, D, E, and K, are often insufficient. Common deficiences may include: Vitamin A: Deficiency can lead to issues with night vision. Vitamin D: Deficiency can lead to problems with proper bone formation and growth. Vitamin E: Deficiency may present as loss of voluntary muscle coordination (known as ataxia), tingling sensations (paresthesia), or visual disturbances. Vitamin K: Deficiency can lead to prolonged bleeding and easy bruising. Another common deficiency is vitamin B12 since it is only absorbed in the terminal ileum, the final portion of the small intestine. Your child may require supplementation of this and many other vitamins and minerals.




Small Intestinal Bacterial Overgrowth (SIBO)


Small Intestinal Bacterial Overgrowth (SIBO) occurs when there are excess bacteria in the intestine. Usually, the balance of bacteria in the intestine is regulated by stomach acid, intestinal motility, and the ileocecal valve. In short bowel patients, these three things may be altered and result in SIBO: 1. Many SBS patients require anti-acid medications which decrease stomach acid production. This can increase the number of bacteria. 2. Decreased intestinal motility results in bacteria build-up since it is not being 'pushed' out of the body. Think of it like bacteria building-up in a stagnant body of water. 3. In short bowel patients without an ileocecal valve (the valve that acts as a 'gate' between the ileum and colon), the colon's bacteria can move backward enter the small intestine. Signs and Symptoms of SIBO:

  • Nausea
  • Gas and bloating
  • Malabsorption
  • Increased diarrhea or ostomy output
Diagnosis: Usually based on symptomology. Tests are available, but often unreliable. Treatment: Antibiotics. Your child's team will decide the best antibiotic regimen.




Gastric Acid Hypersecretion


The stomach relies on signals from certain areas of the small intestine to control the release of stomach acid. In some children with short bowel, the missing portion of intestine results in an impaired signal. Without the proper signal, there is an excessive release of stomach acid. What are the problems associated with increased stomach (gastric) acid secretion (aka gastric hypersecretion)?

  • The increased acid entering the small intestine inactivates some of the pancreatic enzymes, resulting in impaired digestion.
  • Increase in diarrhea or ostomy output due to an increased amount of fluid in the intestine from the acid.
  • Increase in fat malabsorption due to the mixing of excess acid with bile salts.
Treatment: Treatment is with some form of an anti-secretory agent. These medications decrease the amount of acid the stomach secretes. Examples of anti-secretory agents:
  • Proton-pump inhibitors such as pantoprazole or omeprazole
  • Histamine-2 receptor antagonists, such as famotidine and cimetidine
  • Octreotide
  • Clonidine




Steatorrhea and Bile Issues


Steatorrhea is when dietary fat remains in your child's poop after passing through the small intestine unabsorbed. Why does this occur in a short bowel patient?

  • Fats usually combine with bile salts created by your liver and are reabsorbed in your child's terminal ileum (the third portion of the small intestine).
  • Many children with short bowel syndrome do not have this portion of the ileum (esp. if >100 cm or 3.3 ft. of ileum resected), resulting in the continued loss of bile salts.
  • The liver, which produces the bile salts, cannot 'keep up' with production, and the supply of bile salts becomes depleted.
  • The result is that fats pass through the intestine unabsorbed.
  • This leads to a greasy, foul-smelling stool that floats and is usually grey in color.
How is this treated? Diet
  • It will depend on your child's situation. Sometimes, simple dietary changes, such as a low-fat diet, can help to solve the problem.
Bile Acid Sequestrants
  • If your child has an intact colon, the bile salts that were not absorbed by the ileum may reach the colon and irritate its lining.
  • This can lead to increased diarrhea.
  • In these cases, your child's team may recommend certain medications to help decrease diarrhea caused by the bile salts, called bile salt sequestrants.
  • An example of this type of medication is cholestyramine. It reduces the bile salt diarrhea by increasing the removal of bile acids from the body.
  • The downside of these medications is that they can interfere with the absorption of essential things, like fat-soluble vitamins and essential fatty acids.
  • Your team will closely monitor your child to ensure they maintain their nutritional status.




Gallstones (Cholelithiasis)


Your child with short bowel might be at risk for the formation of gallstones. The gallbladder is a small organ located just behind your child's liver. It functions to store bile and release it to aid in the digestion of fats. There are often impaired contractions and bile release from the gallbladder in short bowel patients, causing the bile to become concentrated, often developing stones (known as cholelithiasis). If these cause your child symptoms or other issues, your team may recommend removing the gallbladder, known as a cholecystectomy.





Section 2: GI Disorders and Causes of Short Bowel Syndrome

Gastroschisis


Gastroschisis is a congenital defect in which an infant's bowel sticks out of the body through a defect on one side of the umbilical cord. It is a congenital defect that develops while a woman is pregnant. Because the bowel is outside of the neonate's body, there is the possibility of the intestine becoming damaged.

In complicated gastroschisis cases, the bowel can become necrotic (die) or not form completely (intestinal atresia). In these cases, your neonate will likely need extra nutritional support when they are born. Referral to an intestinal rehabilitation and transplantation center is beneficial.

Diagnosis: Prenatal diagnosis of abdominal wall defects is routine, allowing for proper planning prior to giving birth.

Treatment: The intestine will require surgical correction when your neonate is born. Further nutritional support may be needed depending on the extent of the damage or lack of formation of the bowel.

For more information about gastroschisis, please visit this site.




Intestinal Atresia


Intestinal atresia is a congenital defect that results in a complete blockage (obstruction) or lack of bowel continuity. There are different types of intestinal atresia based on where along the intestine the blockage occurs:

  • Pyloric atresia: This is the rarest form of intestinal atresia. It results when there is a blockage between the pylorus of the stomach and the first part of the intestine known as the duodenum.
  • Duodenal atresia: This type of atresia occurs in the duodenum, the first part of the small intestine that is connected to the stomach.
  • Jejunoileal atresia: This is the most common type of neonatal obstruction. It can be jejunal atresia, in which there is a blockage in the jejunum (the second part of the small intestine), or ileal atresia, in which there is a blockage in the ileum (the third part of the small intestine).

Diagnosis: Intestinal atresia may be diagnosed by prenatal ultrasound, usually during the third trimester. If it is not diagnosed prior to giving birth, signs after birth include bilious vomiting, abdominal distention, and failure to pass the first meconium stool. Post-natal diagnostic tools may include ultrasound, abdominal x-ray, or contrast studies to identify an area of blockage.

Treatment:

  • After careful delivery of your infant, the neonate will be stabilized with intravenous (IV) fluids, and the stomach will be decompressed by the placement of a nasogastric (NG) tube, which is inserted in the nose and travels down the esophagus into the stomach.

  • After stabilization, surgical repair of the obstruction is performed.

  • Infants treated for small bowel atresia face several potential long-term complications, including mechanical bowel problems, feeding, and absorption difficulties.

  • Future nutritional support and intestinal rehabilitation may be required.

For more information please visit this site.




Volvulus or Malrotation


Malrotation is a defect in which the intestine does not form correctly in the abdomen. During development in the womb, the intestine fails to loop into the proper position. Most often, malrotation is not recognized until your child experiences the intestine's twisting, which is known as a volvulus.

When a volvulus occurs, it results in an obstruction within the intestine, preventing food from being digested correctly. Additionally, the blood supply to the intestine can be cut off, leading to the death of a segment of the intestine.

Symptoms of volvulus are indistinguishable from intestinal obstruction, including:

  • Vomiting, often containing bile.
  • Abdominal distention.
  • Children >1 year will complain of abdominal pain.

Diagnosis: Malrotation is usually not identified prior to birth. Your physician will most likely order a barium enema study, CT scan, or abdominal x-ray to aid in the diagnosis of malrotation and volvulus.

Treatment: Surgical management is required, and resection of necrotic (dead) bowel may be necessary. The extent of the removed bowel will determine if your child will need nutritional support and further intervention for intestinal failure and adaptation.

For more information please visit this site.




Total Hirschsprung Disease


Hirschsprung disease is a condition that results when certain nerve cells that are normally present in the wall of the intestine fail to develop properly during fetal development. This abnormality is called aganglionosis.

  • In Hirschsprung’s disease, the most commonly affected organs are the rectum and left colon.
  • However the entire colon and varying lengths of small bowel can lack the nerves (ganglion cells) that allow it to relax, thus, any part of the bowel lacking nerve cells is in a constant squeezing state, prohibiting gas and stool from passing.
  • The upstream bowel that has nerve cells will stretch and become larger in diameter than normal.
Diagnosis is with use of abdominal x-ray, barium enema contrast studies, antroduodenal manometry motility studies, and rectal biopsy. Treatment:
  • Creation of an ostomy at the farthest site of bowel possessing nerve cells to relieve the obstruction.
    • The defective bowel is usually removed to prevent enterocolitis, but if there is a very long length of bowel lacking nerve cells, and an ostomy would be very high in the small bowel, the defective bowel may be left in place to permit abdominal expansion in anticipation of a transplant.
  • The extent of the removal will depend on the level of change from ganglion cells to no ganglion cells in the intestine.
  • The greater the amount of intestine removed, the more likely the child will require parenteral nutritional support.
For more information, visit this site.




Meconium Ileus


Meconium is the first stool that a neonate passes. Sometimes, the meconium in an infant's intestine is thicker and stickier than it should be, is unable to pass, and leads to a bowel obstruction, called meconium ileus. This is most common in children with cystic fibrosis. Signs and Symptoms:

  • Failure to pass meconium (first stool)
  • Bilious vomiting (green vomit)
  • Abdominal distention (swollen belly)
Diagnosis: Usually a simple abdominal x-ray can diagnose the blockage. Treatment: Your infant will likely get a nasogastric (NG) tube and intravenous (IV) fluids and nutrition. They may also require bowel resection. It is common for the bowel resection to cause short bowel syndrome, resulting in the need for future nutritional support and possible referral to an intestinal rehabilitation and transplantation program. To read more, please visit this page.




Necrotizing Enterocolitis (NEC)


Necrotizing enterocolitis (NEC) is a disease that primarily affects the intestine of premature infants and is the leading cause of pediatric short bowel syndrome.

The wall of the intestine is invaded by bacteria, which causes local infection and inflammation that can ultimately destroy the wall of the intestine. The destruction of the bowel wall can lead to perforation (hole formation) of the intestine and spillage of the intestinal contents into the infant’s abdomen, resulting in overwhelming infection and possible death.

Signs and Symptoms:

  • Inability to tolerate feeds
  • Abdominal distention
  • Vomiting bile (green)

Diagnosis is usually based on abdominal x-ray and a variety of laboratory studies.

Treatment:

  • Medical treatment is the first step, including the insertion of a nasogastric tube (NG) to help decompress the stomach, administration of intravenous (IV) fluids and antibiotics, and stopping oral feedings.

  • Surgical treatment may be indicated if the child has clinical deterioration despite optimal medical management, development of an intestinal stricture, or if there is the presence of a pneumoperitoneum (air in the peritoneal cavity), which usually indicates intestinal perforation.

  • Due to extensive bowel resection, many children with NEC may require additional nutrition support. Referral to an intestinal rehabilitation or transplantation program may be beneficial.




Radiation Enteritis


Radiation enteritis is damage to the lining of the intestinal tract caused by radiation therapy.

Radiation is used as a cancer treatment and functions by using high-powered x-ray to kill cancer cells, but the issue is that it can also damage healthy cells. In radiation enteritis there is damage to the cells that line the intestinal tract.

Who is at risk? If your child have had radiation to areas around their abdomen or pelvis, they could be at risk for having radiation enteritis.

Signs and Symptoms

  • Diarrhea
  • Abdominal pain
  • Nausea and vomiting
  • Weight loss
  • Bleeding from rectum
  • Loss of appetite

Diagnosis: A variety of tests may be ordered, including barium x-ray, sigmoidoscopy, colonoscopy, or endoscopy to view the lining of your intestine.

Treatment: Generally, it is just symptom management. If the radiation has caused significant damage to your child's intestinal lining and they are no longer able to absorb nutrients efficiently to maintain nutritional status, your child may need extra nutritional support. Referral to an intestinal rehabilitation or intestinal transplantation program may be indicated.




Crohn's Disease in Kids


Pediatric Crohn’s disease is a rare, inflammatory bowel disease characterized by severe, chronic inflammation of the intestinal wall or any portion of the gastrointestinal tract.

Signs and symptoms of Crohn’s in pediatrics include:

  • Diarrhea (sometimes bloody, may lead to anemia)
  • Abdominal pain that is cramping in nature
  • Fever
  • Rectal bleeding
  • Poor linear growth and lack of adequate weight gain
  • Joint pain

Cause: It is not known what causes Crohn’s disease. It may be a virus or bacteria that affects the body’s infection-fighting system (immune system). Many children with Crohn’s disease have an abnormal immune system.

Diagnosis:

  • Blood tests to check for anemia, or blood loss. Your physician may also order tests to check white blood cells to assess your child’s immune response as well as inflammatory markers.
  • Stool cultures to make sure there isn’t an infection by a parasite or bacteria causing the symptoms.
  • Endoscopy or colonoscopy to check inside the digestive tract and take a small biopsy of the intestinal tissue to look at the tissue under the microscope and confirm the diagnosis of Crohn’s disease.
  • Barium swallow or barium enema contrast study to observe the intestinal tract.

When Crohn’s is severe, the development of fistulas, obstructions, abscesses, or perforations frequently can necessitate the need for surgical resection of the bowel. Frequent surgical resections can result in loss of segments of the intestine and loss of sufficient absorptive capacity to maintain nutritional status.

Common complications from Crohn's requiring resection of the bowel:

  • Stricture: Narrowing of the intestinal wall
  • Perforation: This occurs when the intestinal wall is punctured or torn.
  • Hemorrhage: This is excessive bleeding.
  • Abscess formation: This is a localized collection of infection
  • Fistula: This is an abnormal pathway leading from one part of the intestine to another portion of intestine or to another organ in the body. In some cases a fistula may also lead outside the body onto the skin.

Treatment:

  • The main goals of treatment include correcting nutritional problems, controlling the swelling and inflammation, easing the symptoms, and keeping complications from occurring. Depending on the severity your child’s Crohn’s disease will determine the course of treatment your team will recommend.

  • Certain diet modifications may be recommended or vitamins may be supplemented.

  • Medications such as steroid, antibiotics, or immune-modulating medications may be utilized to help treat more severe cases.

  • Surgical intervention may be required to drain abscesses, resect diseased intestine, or repair fistulas. In the case of extensive surgical resection and resulting short bowel syndrome, intestinal rehabilitation or transplantation may be indicated.




Motility Disoders, including Chronic Intestinal Pseudo-Obstruction (CIPO)


Chronic Intestinal Pseudo-Obstruction (CIPO) is a rare disorder in which intestinal nerve or muscle problems prevent food, fluid, and air from moving through the stomach and intestines due to abnormalities affecting the involuntary, coordinated muscular contraction (called peristalsis) of the GI tract.

Common Signs and Symptoms:

  • Nausea and vomiting

  • Abdominal distention

  • Abdominal pain

  • Constipation

Diagnosis:

  • Manometry: This measures the contractions of the intestinal tract and can help to localize the functioning areas of the gastrointestinal tract. Manometry can help evaluate functional areas prior to any surgical intervention or creation of a stoma.

  • Gastric emptying studies: Direct, noninvasive measurements of liquid or solid gastric emptying to assess function of the stomach.

  • Full-thickness biopsy: Full-thickness biopsies are useful in diagnosis autoimmune or mitochondrial etiology for chronic intestinal pseudo-obstruction and can get a better understanding of abnormalities of the intestinal (enteric) nervous system.

Treatment:

  • Nutritional Support: Majority of patients will require nutritional support, often requiring parenteral nutrition (PN).

  • Prokinetics: These medications help increase the motility of the intestine (help contents move through). Examples include erythromycin, octreotide, prucalopride, and tegaserod.

  • Antibiotics: It is common for individuals with motility disorders to have an overgrowth of bacteria and get small intestinal bacterial overgrowth (SIBO). Antibiotics may be used to help treat SIBO and get rid of symptoms.

  • Surgical: A decompressing gastrostomy or jejunostomy may be helpful to decompress the stomach and intestine.

  • Small Intestine Transplant: This may be indicated in patients who have PN dependency and are experiencing complications from long-term PN use.




Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS)


Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder that results from a developmental defect of the smooth muscle in the bladder and the colon. This interferes with the functioning of the stomach, intestines, kidneys, and bladder, thus interfering with urination and digestion.

It is considered a sub-category of pseudo-obstruction that is characterized by:

  • Distended, non-obstructed urinary bladder microcolon.

  • Incomplete intestinal rotation.

  • Hypoperistalsis in the entire gastrointestinal tract.

  • Failure to pass meconium.

Diagnosis:

  • The enlarged bladder is usually the first detected defect on ultrasound.

  • After birth, it will be detected when your infant doesn’t pass his or her first meconium or produce proper urine.

  • Imaging tests of your infant may show signs of microcolon (very small appearing colon), enlargement of the small intestine or stomach, an enlarged bladder, hydronephrosis, enlarged ureters, or other malformations of the urinary tract.

Treatment is supportive until an intestinal transplant can be performed.




Microvillous Atrophy (MVA)


Also called microvillous inclusion disease, this is a congenital disorder of the intestinal epithelial cells that line the bowel presenting as an severe form of neonatal diarrhea.

Cause: It is due to an inability of the proteins that line the internal surface of the epithelial cell to migrate properly into their correct position. This results in the remaining cells stranded in the middle of the cell, and looking like inclusions within the cell.

The problem: The cell, therefore, fails to absorb nutrients properly, and it pours out fluid inappropriately. It is particularly life threatening due to fluid losses and electrolyte imbalances.

Signs and Symptoms: The disorder is characterized by chronic, severe, watery diarrhea and insufficient absorption (malabsorption) of the nutrients needed due to incomplete development and/or degeneration (atrophy) of the surface cells of the wall of the small intestine.

Infant’s with microvillous atrophy may have chronic diarrhea and malabsorption that may result in:

  • Severe dehydration.
  • Deficiency of necessary nutrients (malnutrition).
  • Failure to grow and gain weight.
  • Disturbance of the body’s balance of acids and bases, which is essential in regulating the body’s composition of bodily fluids (acidosis).

Diagnosis is easily performed on basis of microscopic exam of duodenal or jejunal biopsy specimens of the intestine using either special stains or electron microscopy.

Treatment includes intravenous (IV) hydration and parenteral nutrition (PN). Continuous PN is often required because of the copious amounts of watery stools and extreme dehydration. The most common form of MVA is an indication for intestinal rehabilitation and intestinal transplant, but a second less severe form may result in a normal life span off PN. It is important to be evaluated and treated in a center with expertise in this disorder in order to follow the correct form of treatment.




Intestinal Epithelial Dysplasia (IED, aka Tufting Enteropathy)


Intestinal Epithelial Dysplasia is a rare genetic disease of the intestine that causes severe diarrhea and the inability to absorb nutrients. The condition usually develops shortly after birth and is a part of a group of disorders of congenital diarrheas.

Intestinal epithelial dysplasia occurs when the surface cells lining the intestine do not develop normally resulting in the inability to absorb fluid and nutrients entering the intestine. Signs and symptoms present within the first few weeks of life and diarrhea persists despite bowel rest. Newborns fail to thrive and develop severe protein-energy malnutrition.

Diagnosis is based on biopsy of the small intestine and looking at the sample under a microscope where it shows the characteristic tufting appearance.

Treatment is supportive and involves parenteral nutrition (PN) and intravenous (IV) hydration. For patients requiring long-term PN and full dependency, intestinal rehabilitation or transplantation may be indicated.

For more information please visit this site.





Section 4: Additional Resources

Helpful Downloads From Transplant Unwrapped


Sign-Up or Log-In to Access: 1. Short Bowel Syndrome (SBS) and Intestinal Rehabilitation Handbook. 2. The Digestive System: A brief overview of the important parts of the digestive tract and how they relate to short bowel. 3. Short Bowel Syndrome At-a-Glance for the Pediatric Patient. 4. The Best Fluids for Intestinal Patients.




Helpful Website: Short Bowel Syndrome


Short Bowel Syndrome: A website developed for individual's living with short bowel syndrome. Lot's of informative and educational information.




Helpful Website: UVA Nutrition


UVA Nutrition: University of Virginia Nutrition resource webpage with numerous downloads and information on short bowel syndrome and nutrition.




Transplant Unwrapped: Learn From Others


Learn From Others: Read stories, watch interviews, and listen to audio from numerous members of the intestinal community on a variety of topics. Useful for This Section: Learn from Others- Patient Q & A- Special Edition: Living with Short Bowel




Transplant Unwrapped: Support Programs


Support Programs: Visit the Transplant Unwrapped Support Programs page to get your questions answered, speak with others in similar situations, and feel well-supported during your medical journey.




Page References


References here.