Digestive System

Stenosis

Spinal stenosis is a medical condition in which the spinal canal narrows and compresses the spinal cord and nerves. This is usually due to the spinal degeneration that commonly occurs with aging. It can also sometimes be caused by osteoporosis, spinal disc herniation, or a tumor.

Spinal stenosis may affect the cervical, thoracic or lumbar spine.

Symptoms include:

  • Pain
  • Weakness
  • Tingling of the legs

Surgery for spinal stenosis is the most common spinal operation in people over the age of 50. However, spinal stenosis caused by developmental narrowing of the spinal canal may occur in people in their 20s and 30s.

Operations used to treat stenosis include:

  • Anterior Cervical Discectomy and Fusion — A small incision in the front of the neck is used to access the upper spine. The ruptured or herniated disc is removed and replaced with a small bone plug, which eventually grows to connect the two adjacent vertebrae.
  • Cervical Corpectomy — Part of the vertebra and discs are removed and replaced with a bone graft or a metal plate and screws to support the spine.
  • Decompressive Laminectory — The roof of the vertebrae, called the lamina, is surgically removed. The procedure also may include removing part of the disc or fusing the vertebrae (spinal fusion).
  • Foramenotomy — The area where nerve roots leave the spinal canal, called the foramen, is removed. This procedure can be performed using a minimally invasive approach with an endoscope, an instrument that allows the surgeon to see inside the body through a tiny incision. The surgeon can then use other tiny incisions to perform the surgery, avoiding the discomfort and muscle atrophy associated with the traditional open technique that uses a large incision.
  • Laminoplasty — The compressive bone in the back of the neck is gently lifted off of the spinal cord creating a new “roof” over the spinal cord and nerve roots. This procedure effectively decompresses the spinal cord over multiple segments without the need for fusion or hardware. It also minimizes the chance of spinal instability or deformity that may result from the traditional laminectomy procedure.
  • Laminotomy — Only a small portion of the lamina is removed.
  • Medial Facetectomy — Part of the bone structure in the spinal canal, called the facet, is removed.
  • Cervical Disc Replacement — Instead of fusing the affected area, the natural disc material is replaced with a metal and plastic prosthesis that maintains or restores the motion segment. This will hopefully prevent degeneration of the next disc level.

Cervical Stenosis

Stenosis in the neck, also called the cervical spine, affects the upper part of the body including the arms and hands. Stenosis is the narrowing of the bony canal that protects the spinal cord and its branching nerves to the point where it injures the spinal cord or nerves.

This may be caused by a number of conditions including:

  • Bone spurs
  • Rupture of the spinal discs

Cervical stenosis may cause pain, numbness, or weakness in the legs. The pain may move from one part of the body to another but is often most noticeable in the neck.

If the stenosis is severe and is not responding to other treatment methods, surgery to widen the spinal canal may be necessary. Because bone continues to deteriorate, additional treatment may be needed several years after even successful surgery.

Lumbar Stenosis

Stenosis in the lower back is called lumbar stenosis. It is often characterized by radiating pain in the buttocks and legs.

Frequently people afflicted with lumbar stenosis have varying degrees of low back discomfort. The pain typically occurs most often during activities and is relieved by resting, sitting or bending forward. In some cases, the pain is centralized in the lower legs and feet. In severe cases, it also can impact continence (bowel and bladder control) and sexual function.

The initial treatment for stenosis is to treat the symptoms rather than the condition itself. These treatments include:

  • Rest
  • Posture changes, such as lying with the knees drawn up to the chest or leaning forward while walking, may relieve the pressure on the nerves
  • Medication such as aspirin or ibuprofen to relieve inflammation and pain
  • Physical therapy
  • Losing weight
  • Corticosteroid injections to reduce inflammation and relieve pain
  • A cervical collar

If several months of treatment have not improved the symptoms, and if the stenosis is severe, surgery to widen the spinal canal may be necessary. Because bone continues to deteriorate, additional treatment may be needed several years after even successful surgery.

Cyclic Vomiting Syndrome

Cyclic Vomiting Syndrome (CVS) is characterized by episodes or cycles of severe nausea and vomiting that last for hours, or even days, that alternate with intervals with no symptoms.

Although originally thought to be a pediatric disease, CVS occurs in all age groups. In children CVS starts most often between the ages of 3 and 7.

Each episode of CVS is similar to previous ones, meaning the episodes tend to start at the same time of day, last the same length of time, and occur with the same symptoms and level of intensity. Episodes can be so severe that a person has to stay in bed for days, unable to go to school or work.

CVS has four phases:

Symptom-free interval phase. This phase is the period between episodes when no symptoms are present.
Prodrome phase. This phase signals that an episode of nausea and vomiting is about to begin. Often marked by nausea—with or without abdominal pain—this phase can last from just a few minutes to several hours. Sometimes, taking medicine early in the phase can stop an episode in progress. However, sometimes there is no warning; a person may simply wake up in the morning and begin vomiting.
Vomiting phase. This phase consists of nausea and vomiting; an inability to eat, drink, or take medicines without vomiting; paleness; drowsiness; and exhaustion.
Recovery phase. This phase begins when the nausea and vomiting stop. Healthy color, appetite, and energy return.
Many people can identify a specific condition or event that triggered an episode, such as an infection. Common triggers include:

Emotional stress and excitement (in children)
Anxiety and panic attacks
Colds
Allergies
Sinus problems
The flu
Eating certain foods such as chocolate or cheese
Eating too much
Eating just before going to bed
Hot weather
Physical exhaustion
Menstruation
Motion sickness
A person who experiences the following symptoms for at least 3 months—with first onset at least 6 months prior—may have CVS:

Vomiting episodes that start with severe vomiting—several times per hour—and last less than 1 week
Three or more separate episodes of vomiting in the past year
Absence of nausea or vomiting between episodes
A person with CVS may experience:

Abdominal pain
Diarrhea
Fever
Dizziness
Sensitivity to light during vomiting episodes
Continued vomiting may cause severe dehydration that can be life threatening. Symptoms of dehydration include thirst, decreased urination, paleness, exhaustion, and listlessness. A person with any symptoms of dehydration should see a health care provider immediately.

The relationship between migraine and CVS is still unclear, but medical researchers believe the two are related.

The severe vomiting that defines CVS is a risk factor for several complications:

Dehydration. Vomiting causes the body to lose water quickly. Dehydration can be severe and should be treated immediately.
Electrolyte imbalance. Vomiting causes the body to lose important salts it needs to keep working properly.
Peptic esophagitis. The esophagus—the tube that connects the mouth to the stomach—becomes injured from stomach acid moving through it while vomiting.
Hematemesis. The esophagus becomes irritated and bleeds, so blood mixes with vomit.
Mallory-Weiss tear. The lower end of the esophagus may tear open or the stomach may bruise from vomiting or retching.
Tooth decay. The acid in vomit can hurt teeth by corroding tooth enamel.
CVS is hard to diagnose because no tests—such as a blood test or x ray—can establish a diagnosis of CVS.

Treatment varies, but people with CVS generally improve after learning to control their symptoms. People with CVS are advised to get plenty of rest and sleep and to take medications that prevent a vomiting episode, stop one in progress, speed up recovery, or relieve associated symptoms.

Once a vomiting episode begins, treatment usually requires the person to stay in bed and sleep in a dark, quiet room. Severe nausea and vomiting may require hospitalization and intravenous fluids to prevent dehydration. Sedatives may help if the nausea continues.

Sometimes, during the prodrome phase, it is possible to stop an episode from happening. For example, people with nausea or abdominal pain before an episode can ask their doctor about taking ondansetron (Zofran) or lorazepam (Ativan) for nausea or ibuprofen (Advil, Motrin) for pain. Other medications that may be helpful are ranitidine (Zantac) or omeprazole (Prilosec), which help calm the stomach by lowering the amount of acid it makes.

People whose episodes are frequent and long-lasting may be treated during the symptom-free intervals in an effort to prevent or ease future episodes. Medications that help people with migraine headaches are sometimes used during this phase, but they do not work for everyone. Taking the medicine daily for 1 to 2 months may be necessary before one can tell if it helps.

Henoch-Schönlein Purpura

Henoch-Schönlein purpura (HSP) is a disease that causes small blood vessels in the skin to leak because of inflammation.

HSP can occur any time in life, but it usually happens in children between the ages of 2 and 11.

The causes of HSP are not fully understood. One theory is that it may develop as an immune response to an infection. Once the immune cells have rid the body of the germ cells, they continue to attack other cells in the body. This theory is based on the fact that, in many cases, HSP symptoms recur or worsen during upper respiratory infections. HSP has also been associated with insect bites and exposure to cold weather. Other cases have developed after a person received vaccination for typhoid, measles, cholera, hepatitis B, or yellow fever. Some foods, drugs, or other chemical toxins may trigger HSP as well. Often no cause can be found.

HSP has four main symptoms:

  • Rashes and bruising. Leaking blood vessels in the skin cause rashes that look like bruises or small red dots to develop on the legs, buttocks, and back of the arms. The rash may first look like hives, then change to look like bruises. Rarely, the rash may spread to the upper part of the body, but it is usually on the parts of the body that “hang down,” like the legs, buttocks, elbows, and even earlobes. The rash does not disappear or turn pale when you press on it.
  • Abdominal pain. About two-thirds of people with HSP experience pain in the stomach that may cause vomiting or blood in the stool. This pain and bleeding can vary from mild to severe.
  • Arthritis. About 80 percent of people with HSP have pain and swelling in their joints, usually in the knees and ankles, less frequently in the elbows and wrists. These joint symptoms have no long-lasting effects, although they can be very uncomfortable while they’re present.
  • Kidney involvement. Blood in the urine (hematuria) occurs in about 40 percent of people with HSP. Often the blood cannot be seen by the naked eye, but it can be measured with a laboratory test called a urinalysis. In most people the hematuria goes away without permanent kidney damage. Protein in the urine or development of high blood pressure (hypertension) suggests more severe kidney problems.

In most cases, HSP lasts 4 to 6 weeks, with no long-term consequences. Sometimes symptoms come and go during this time period. About one in three people have more than one episode (recurrence) of HSP. Recurrences usually occur within a few months and are usually less severe than the initial episode. Even when it lasts longer than a few months, HSP can still resolve completely.

There is no specific treatment for HSP. The main goals of treatment are to relieve symptoms such as joint pain, abdominal pain, or swelling. In most cases, you can use over-the-counter medicines, such as acetaminophen (Tylenol), for the pain. In some patients with severe arthritis, the doctor may prescribe prednisone, a steroid medicine.

Between 20 and 50 percent of children with HSP develop some kidney problems, but only 1 percent progress to total kidney failure. Progression to kidney failure may take as long as 10 years. Your doctor will check your kidney function with blood and urine tests even after the main symptoms of HSP disappear. People who develop kidney disease usually show signs within 3 to 6 months after the initial rash appears. These immunosuppressive drugs may be prescribed to keep kidney disease from progressing to permanent kidney failure. A person with severe kidney failure must receive a blood cleansing treatment called dialysis or a kidney transplant if the damage is permanent.

Another rare complication of HSP is intussusception of the bowel, or intestine. With this condition, a section of the bowel folds into itself like a telescope. The bowel may become blocked as a result. Prednisone may be prescribed by your doctor, or the problem may need to be corrected with surgery.

Congenital Heart Disease

Some of the most common conditions of congenital heart disease are:

Advances in surgery and medication mean that more and more children born with heart defects are surviving. In addition, minor congenital heart defects that don’t cause symptoms may not be diagnosed until a person is an adult or reaches middle age. It is estimated that 20,000 people with congenital heart disease reach adulthood every year in North America. Because people born with defects are most likely to pass on these defects to their children, it is likely that the prevalence of adults living with chronic defects will increase.

For some people with mild levels of disease, the only treatment necessary may be regular monitoring of the defect and extra precautions against infection during surgical or dental procedures. For others, treatment may range through various medication therapies up through heart and lung transplantation.

Ebstein Anomaly

Ebstein anomaly is a rare defect in which the tricuspid valve, which prevents backflow of blood from the right ventricle into the right atrium, is deformed. The right side of the heart is where deoxygenated blood from the body is pumped into the lungs for oxygenation. Ebstein anomaly usually consists of the valve being displaced downward into the ventricle. The three flaps, or leaflets, that make up the valve opening are malformed or absent. This results in blood leaking back into the atrium.

In addition to the valve malformation, this condition also often includes:

  • Atrial septal defect, a hole between the atrial chambers, in about half of patients
  • Enlarged right heart chambers
  • Irregular heart rhythm or arrhythmia

Babies born with Ebstein anomaly usually are treated surgically in infancy so most adults with the condition only have mild symptoms. Often, when Ebstein anomaly is first detected during adulthood, the condition is mild. More severe complications can result in heart failure and in cyanosis (the skin takes on a bluish tint due to a lack of oxygen). An adult may experience difficulty breathing, have problems with exercise, chest pain and fainting spells.

Eisenmenger’s Syndrome

Eisenmenger’s syndrome, which is named after the doctor who first described it, is a combination of two conditions. First, it involves having a hole between two cardiac chambers that allows oxygenated blood to recirculate back into the right ventricle and to the lungs instead of flowing out of the left ventricle to the rest of the body. Over time, this extra blood flow to the lungs damages their vessels, causing high pressures or pulmonary hypertension that reverses the flow of blood, so the deoxygenated blood goes out to the rest of the body.

Eisenmenger’s syndrome refers to this combination of reversed blood flow with pulmonary hypertension. It results in cyanosis or low oxygen content in the blood and may eventually result in failure of the right ventricle. However, many patients live well into adulthood with the proper care.

The hole may be a ventricular septal defect, an atrial septal defect or a patent ductus arteriosus. A baby born with a single ventricle also may develop this condition.

Signs and symptoms of Eisenmenger’s syndrome include:

  • Cyanosis, a blue tinge to the skin resulting from lack of oxygen
  • High red blood cell count
  • Fainting, called syncope
  • Heart failure
  • Arrhythmia or irregular heart rhythms
  • Bleeding disorders
  • Coughing up blood
  • Swollen or clubbed finger tips
  • Iron deficiency
  • Kidney problems
  • Stroke
  • Gout
  • Gallstones

Pulmonary Stenosis

Pulmonary stenosis is a narrowing of the pulmonary valve that regulates the flow of blood from the right ventricle to the lungs. This narrowing may force the heart to pump harder to send blood to the lungs and lead to enlargement of the heart.

The heart consists of four chambers. The two upper chambers, called atria, where blood enters the heart and the two lower chambers, called ventricles, where blood is pumped out of the heart. The flow between the chambers is controlled by a set of valves that act as one-way doors.

Blood is pumped from the right side of the heart up through the pulmonary valve to the pulmonary artery to the lungs, where the blood is filled with oxygen. From the lungs, the blood travels back down to the left atrium and left ventricle. The newly oxygenated blood is pumped through another big blood vessel called the aorta to the rest of the body.

The pulmonary valve has three leaflets or valves that work to open and close the valve. Stenosis occurs when the valve does not open fully and obstructs blood flow. Stenosis may occur because the valve is deformed with only one or two leaflets, or because the leaflets are stuck together.

People with pulmonary stenosis often have no symptoms. However, if the condition is severe, symptoms may include:

  • Turning blue (cyanosis)
  • Rapid breathing
  • Fainting
  • Low energy

Zollinger-Ellison Syndrome

Zollinger-Ellison Syndrome (ZES) is a rare disorder characterized by one or more tumors in the pancreas, duodenum, or both. The tumors cause the stomach to make too much acid, leading to peptic ulcers in the duodenum. The tumors are sometimes cancerous and spread to other areas of the body.

ZES is caused by tumors called gastrinomas, which release the hormone gastrin. Normally, cells in the stomach produce and control gastrin so only the right amount is released. Gastrin travels through the bloodstream to signal other cells in the stomach to release gastric acid to help break down food. Gastrinomas release abnormal amounts of gastrin, resulting in excess gastric acid in the stomach and duodenum. The excess acid eventually causes sores called peptic ulcers to form in the lining of the duodenum.

Scientists are unsure what causes the majority of gastrinomas, which appear sporadically. About 25 percent of gastrinoma cases are caused by an inherited genetic disorder called multiple endocrine neoplasia type 1 (MEN1). MEN1 can cause a variety of hormone-releasing tumors such as prolactinomas and insulinomas.

Anyone can get ZES, but the disease is more common among men 30 to 50 years old. People with MEN1 have a 20 to 61 percent chance of developing ZES. Children who have a parent with MEN1 have a 50 percent chance of inheriting the MEN1 gene and are, therefore, also at increased risk of ZES.

ZES symptoms are similar to those of peptic ulcers and include:

  • Burning abdominal pain
  • Nausea and vomiting
  • Weight loss
  • Diarrhea
  • Severe gastroesophageal reflux — a condition where gastric acid and food from the stomach backs up into the esophagus

The outcome for people with ZES largely depends on the nature and extent of the gastrinomas. About 25 percent of gastrinoma cases are considered cancerous, with an estimated 10-year survival rate of around 30 percent. The remaining cases are considered slow-growing, with an estimated 10-year survival rate of around 95 percent. If peptic ulcer symptoms are well controlled, however, most patients—even those with tumors that spread—will feel well until the late stages of the disease.

ZES is treated with medications to relieve ulcer symptoms and surgery, if appropriate, to remove tumors. Chemotherapy is sometimes used when tumors are too widespread to remove with surgery. A class of drugs called proton pump inhibitors effectively reduces gastric acid secretion in the stomach. Reducing stomach acid allows peptic ulcers to heal and relieves ZES symptoms.

The only cure for ZES is surgical removal of gastrinomas. Some gastrinomas behave like cancers and spread to other parts of the body, especially the liver and bones. Finding and removing all gastrinomas is often challenging. Gastrinomas that cannot be surgically removed are sometimes treated with chemotherapy drugs.

Whipples Disease

Whipple’s disease is a rare bacterial infection primarily affecting the small intestine. It can also affect the heart, lungs, brain, joints, and eyes.

Whipple’s disease is caused by bacteria called Tropheryma whipplei (T. whipplei).

Anyone can get Whipple’s disease, but it is more common in middle-aged Caucasian men.

Scientists are unsure how T. whipplei infects people. One theory is that some people are more vulnerable to Whipple’s disease due to genetic factors that influence the body’s immune system. This theory is supported by the existence of a relatively high number of people who have the bacteria in their bodies but don’t get sick. Also, the bacteria are more common in the environment (showing up in soil and sewage wastewater) than would be predicted based on the rareness of the disease. And while multiple cases of Whipple’s disease have occurred within the same family, no documentation exists of a person-to-person transmission.

T. whipplei infection can cause:

  • Internal sores
  • The thickening of tissues
  • Villi (tiny finger-like projections that line the small intestine) take on an abnormal, clublike appearance. The damaged intestinal lining fails to properly absorb nutrients, causing diarrhea and malnutrition

Classic signs and symptoms of Whipple’s disease include:

  • Periodic joint pain, with or without inflammation, that may persist for years before the appearance of other symptoms
  • Chronic diarrhea, with or without blood
  • Weight loss
  • Abdominal pain and bloating
  • Fever
  • Fatigue
  • Anemia — a condition in which the blood has a lower-than-normal number of red blood cells

Less common signs and symptoms of Whipple’s disease include:

  • Darkening of the skin
  • Enlarged lymph nodes
  • Chronic cough
  • Chest pain
  • Pericarditis — inflammation of the membrane surrounding the heart
  • Heart failure

Neurologic symptoms occur in some people diagnosed with Whipple’s disease and can mimic symptoms of almost any other neurologic condition. Neurologic symptoms of Whipple’s disease include:

  • Vision problems
  • Dementia
  • Facial numbness
  • Headache
  • Muscle weakness or twitching
  • Difficulty walking
  • Memory problems

Symptoms of neurologic, lung, or heart disease occasionally appear without gastrointestinal symptoms. Left untreated, Whipple’s disease is fatal.

Whipple’s disease is treated with long-term antibiotics that kill T. whipplei bacteria. Standard therapy for Whipple’s disease involves initial treatment with intravenous (IV) antibiotics for 2 weeks, followed by daily oral antibiotic treatment for 1 to 2 years.

An alternative treatment for Whipple’s disease is a combination of doxycycline (Vibramycin) plus the antimalarial drug hydroxychloroquine (Plaquenil) taken for 12 to 18 months. Supporters of this approach recommend that people with neurologic Whipple’s disease also take long-term antibiotics that can enter the cerebrospinal fluid and brain, such as sulfamethoxazole.

After treatment, the likely outcome for most people with Whipple’s disease is good. Most symptoms disappear in about 1 month. Relapse is common, however, highlighting the need to closely watch for a return of symptoms.

People with neurologic Whipple’s disease who relapse tend to have much poorer health outcomes, including serious neurologic symptoms and even death; therefore, some scientists argue that all cases of Whipple’s disease should be considered neurologic. Relapsing neurologic Whipple’s disease is sometimes treated with a combination of antibiotics and weekly injections of interferon gamma (IFNγ)—a substance made by the body that activates the immune system.

Vomiting

Vomiting is the forceful expulsion of the contents of one’s stomach through the mouth.

Vomiting is common in children.

Often vomiting occurs along with diarrhea and is caused by a virus. Other infections, excitement and coughing may also cause vomiting. Gastroesophageal reflux can also cause vomiting.

Vomiting can cause dehydration or “drying out”, which can be very serious. Dehydration happens when your child loses too much liquid.

Early signs and symptoms of dehydration include:

  • Child has not urinated in 6 hours (babies usually have 6-8 wet diapers in 24 hours)
  • Child is less active than normal or is unusually sleepy
  • Child’s urine is dark yellow and may smell strong like ammonia
  • Child’s mouth is dry and sticky

Later signs of dehydration include:

  • Baby’s “soft spot” is sunken
  • Child’s eyes are sunken
  • Child has no energy and is difficult to wake up
  • Child has a fever

To keep your child from becoming dehydrated, it is important to give your child liquids.

After vomiting, infants should drink:

  • Breast milk
  • Infalyte® (do not add water to dilute Infalyte)
  • Pedialyte® (do not add water to dilute Pedialyte)
  • Formula

To ensure infants get enough liquid, breastfeed more often and for a shorter amount of time. For example, breastfeed every half hour for 10 minutes on 1 breast. After 2 or 3 hours, if this is tolerated well, return to your normal breastfeeding schedule. If you are bottle feeding, start with Pedialyte or Infalyte. Give 1 ounce every half hour for 2 or 3 hours. If the baby takes this well, return to normal feedings with regular strength formula, giving only 1-2 ounces at a time. If the infant does not have vomiting after 8 hours, you can try to resume his/her normal formula feeding routine. If vomiting continues, offer 2 or 3 ounces of Pedialyte or Infalyte after each time the baby vomits. Continue feedings with regular formula or breast milk.

After vomiting, older children should have:

  • Gatorade® (Check with your child’s doctor about other sports drinks. They may not be right for your child.)
  • Caffeine-free tea
  • Popsicles — regular or Pedialyte

To ensure older children remain hydrated, give liquids in small amounts and frequently. For example, give 1 or 2 ounces every half hour. If your child takes this well, increase the amount a little every half hour. If your child vomits, decrease the amount of liquid for the next feeding and then try to slowly increase the amount again with every feeding after that. Slowly advance the diet to a regular diet. Greasy foods and foods high in sugar should be added slowly because they may increase vomiting.

Foods to start with:

  • Rice
  • Plain crackers
  • Chicken
  • Noodles
  • Potatoes
  • Bananas
  • Applesauce

Foods to avoid until the vomiting ends:

  • Fruit juice
  • Kool-Aid
  • Dairy products
  • Fried foods

Warning: Do not use any medication for your baby or child unless your child’s doctor tells you to give it to him/her. Medications that are good for adults or older children can be dangerous for babies or small children.

Call your child’s doctor if:

  • Your child shows any signs of dehydration
  • Your child has green or bloody vomit
  • Your child experiences severe stomach pain (babies may be very irritable and cry a lot)
  • Vomiting lasts more than 6 hours

VACTERL or VATER Association

VACTERL or VATER association is an acronym used to describe a series of characteristics which have been found to occur together.

V stands for vertebrae, which are the bones of the spinal column.

A stands for imperforate anus or anal atresia, or an anus that does not open to the outside of the body.

C denotes cardiac anomalies.

TE stands for tracheoesophageal fistula, which is a persistent connection between the trachea (the windpipe) and the esophagus (the feeding tube).

R stands for renal or kidney anomalies.

L is often added to stand for limb anomalies (radial agenesis).

Babies who have been diagnosed as having VACTERL association usually have at least three or more of these individual anomalies.

There is a wide range of manifestation of VACTERL association so that the exact incidence within the population is not exactly known.

No specific genetic or chromosome problem has been identified with VACTERL association. VACTERL can be seen with some chromosomal defects such as Trisomy 18 and is more frequently seen in babies of diabetic mothers. VACTERL association, however, is most likely caused by multiple factors.

Up to 75 percent of patients with VACTERL association have been reported to have congenital heart disease. The most common heart defects seen with VACTERL association are:

Less common defects are truncus arteriosus and transposition of the great arteries. Babies may have a murmur at birth, however absence of a murmur does not rule out congenital heart disease. If a baby is suspected of having VACTERL association, consultation with a pediatric cardiologist is recommended.

Vertebral anomalies usually consist of small (hypoplastic) vertebrae or hemivertebra where only one half of the bone is formed. About 70 percent of patients with VACTERL association will have vertebral anomalies. In early life these rarely cause any difficulties, although the presence of these defects on a chest X-ray may alert the physician to other defects associated with VACTERL. Later in life these spinal column abnormalities may put the child at risk for developing scoliosis, or curvature of the spine.

Anal atresia or imperforate anus is seen in about 55 percent of patients with VACTERL association. These anomalies are usually noted at birth and often require surgery in the first days of life. Sometimes babies will require several surgeries to fully reconstruct the intestine and anal canal.

Esophageal atresia with tracheo-esophageal fistula (TE fistula) is seen in about 70 percent of patients with VACTERL association, although it can frequently occur as an isolated defect. Fifteen percent to 33 percent of patients with TE fistulas will also have congenital heart disease. These babies usually have uncomplicated heart defects, like a VSD, which may not require any surgery.

Renal or kidney defects are seen in approximately 50 percent of patients with VACTERL association. In addition, up to 35 percent of patients with VACTERL association have a single umbilical artery (there are usually two) which can often be associated with kidney or urologic problems. These defects can be severe with incomplete formation of one or both kidneys or urologic abnormalities such as obstruction of outflow of urine from the kidneys or severe reflux (backflow) of urine into the kidneys from the bladder. These problems can cause kidney failure early in life and may require kidney transplant. Many of these problems can be corrected surgically before any damage can occur.

Limb defects occur in up to 70 percent of babies with VACTERL association and include absent or displaced thumbs, extra digits (polydactyly), fusion of digits (syndactyly) and forearm defects. Babies with limb defects on both sides tend to have kidney or urologic defects on both sides, while babies with limb defects on only one side of the body tend to have kidney problems on that same side.

Many babies with VACTERL are born small and have difficulty gaining weight. However, they tend to have normal development and intelligence.

If your baby is diagnosed with VACTERL Association, the important thing is to identify all of the possible associated defects and treat them accordingly. Unless there are several very severe defects, babies with VACTERL association do well and can lead normal productive lives.

Umbilical Hernia

An umbilical hernia is an abnormal bulge that can be seen or felt at the umbilicus (belly button). This hernia develops when a portion of the lining of the abdomen, part of the intestine, and/or fluid from the abdomen, comes through the muscle of the abdominal wall.

Umbilical hernias are common, occurring in 10% to 20% of all children. They are more common in African Americans. Low birth weight and premature infants are also more likely to have an umbilical hernia. Boys and girls are equally affected.

As the fetus develops during pregnancy, there is a small opening in the abdominal muscles that allows the umbilical cord to pass through, connecting mother to baby. As the baby grows after birth, this opening in the abdominal muscles closes. Sometimes, however, these muscles do not meet and grow together completely, and a small opening remains. This opening is called an umbilical hernia.

Umbilical hernias appear as a bulge or swelling in the belly button area. The swelling may become more noticeable when the baby cries, and may become smaller or disappear when the baby is quiet. If a physician gently pushes on the bulge when a child is lying down and calm, it will usually get smaller or go back into the abdomen.

Sometimes the intestines get trapped within the umbilical hernia. This is referred to as an incarcerated hernia. When this occurs, the child usually has severe pain and the bulge may be firm and red. Urgent medical evaluation to exclude an incarcerated hernia is required in order to prevent possible damage to the intestines. It is uncommon for this to occur.

Many umbilical hernias close spontaneously by ages 3 to 4. If closure does not occur by this time, surgical repair is usually advised. In younger children, if there is an episode of incarceration or if the hernia is very large, surgical repair may be recommended.

While premature infants and children with certain medical conditions may require overnight observation in the hospital, most children are able to return home within a few hours after surgery.

Once the hernia is closed, it is unlikely that it will reoccur. However, the risk of recurrence is increased in patients who have wound infections following surgery.