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Legg-Calvé-Perthes disease is a temporary condition in children in which the ball-shaped head of the thigh bone, referred to as the femoral head, loses its blood supply. As a result, the femoral head collapses. The body will absorb the dead bone cells and replace them with new bone cells. The new bone cells will eventually reshape the femoral head of the thigh bone. Legg-Calvé-Perthes disease causes the hip joint to become painful and stiff for a period of time.

Legg-Calvé-Perthes disease goes through four phases of changes that affect the head of the femur. The phases include:

Phase 1 - Blood supply is absent to the femoral head and the hip joint becomes inflamed, stiff, and painful. Portions of the bone turn into dead tissue. The ball of the thigh bone becomes less round in appearance on x-rays. This phase can last from several months up to one year.

Phase 2 - The body cleans up the dead bone cells and replaces them with new, healthier bone cells. The femoral head begins to remodel into a round shape again. The joint is still irritated and painful. This phase can last from one to three years.

Phase 3 - The femoral head continues to model itself back into a round shape with new bone. This phase lasts for one to three years.

Phase 4 – Normal bone cells replace the new bone cells. This last phase can last a few years to complete the healing process.

The cause of Legg-Calvé-Perthes disease is unknown. It is four times more likely to occur in boys than girls.

Legg-Calvé-Perthes disease commonly affects first-born children and is typically seen in children 4 to 8 years of age. The majority of cases affect only one hip.

The child typically complains of pain in his/her hip that is aggravated by activity. Sometimes, they will also experience pain in their thigh or knee area. The child usually walks with a limp and reports that rest will alleviate the pain.

The symptoms of Legg-Calvé-Perthes disease may resemble other conditions or medical problems of the hip. Always consult your child’s physician for a diagnosis.

In addition to a complete medical history and physical examination, diagnostic procedures for Legg-Calvé-Perthes disease may include:

• x-rays – a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• bone scans – a nuclear imaging method to evaluate any degenerative and/or arthritic changes in the joints; to detect bone diseases and tumors; to determine the cause of bone pain or inflammation.
• magnetic resonance imaging (MRI) – a diagnostic procedure that uses a combination of large magnets, radio frequencies, and a computer to produce detailed images of organs and structures within the body.
• arthrograms – a diagnostic imaging test to study the non-bony structures of joints.
  blood tests

Specific treatment for Legg-Calvé-Perthes disease will be determined by your child’s physician based on:

• your child’s age, overall health, and medical history
• the extent of the condition
• your child’s tolerance for specific medications, procedures, or therapies
• expectations for the course of the condition
• your opinion or preference

The goal of treatment is to preserve the roundness of the femoral head and to prevent deformity while the condition runs its course. Treatment options are dependent upon the amount of hip pain, stiffness, and x-ray changes over time, as well as how much of the femoral head has collapsed.

Typically, the first step of treatment is to regain hip motion and eliminate pain that results from the tight muscles around the hip and the inflammation inside the joint.

Treatment may include:

• rest
• activity restrictions
• medications
• bed rest and traction
• casting or bracing (to hold the femoral head in the hip socket, permit limited joint movement, and allow the femur to remold itself into a round shape again)
• surgery (to hold the femoral head in the hip socket)
• physical therapy (to keep the hip muscles strong and to promote hip movement)
  crutches or wheelchair (in some cases)

The ultimate goal in Legg-Calvé-Perthes disease is to diagnose the condition early in order to allow as much time as possible to let the femoral head remodel back into a round shape. Other treatment goals include controlling pain, maintaining hip motion, and preventing continued hip deformity.

The two most critical factors that determine the outcome are the child’s age and how much of the femoral head is affected by this condition.

The more severe the case, the greater the likelihood that the child may experience limited hip motion, differences in leg lengths, and further hip problems in adulthood.

Anorectal malformations are birth defects (problems that happen as a fetus is developing during pregnancy). With this defect, the anus and rectum (the lower end of the digestive tract) do not develop properly. “Ano” refers to the anus (the opening at the end of the large intestine through which stool passes when a baby has a bowel movement). “Rectal” refers to the rectum (the area of the large intestine just above the anus)

During a bowel movement, stool passes from the large intestine to the rectum and then to the anus. Muscles in the anal area help to control when a bowel movement occurs. Nerves in the area help the muscles sense the need for a bowel movement and also stimulate muscle activity.

With an anorectal malformation, several abnormalities can occur, including the following:

• The anal passage may be narrow.
• A membrane may be present over the anal opening
• The rectum may not connect to the anus
• The rectum may connect to part of the urinary tract or the reproductive system through a passage called a fistula.

The treatment for the malformation depends on which type of abnormality is present.
As a fetus is growing in its mother’s uterus before birth, different organ systems are developing and maturing. The lower end of the intestinal tract forms fairly early in pregnancy.

In a fetus, the lower portion of the large intestine and the urinary tract start off as one large mass of cells. Certain steps have to take place in the 7th to 10th weeks of gestation for the rectum and anus to separate from the urinary tract and form properly. Sometimes, these steps do not occur as they should, and the rectum and/or anus may not develop normally. Nothing that the mother did during pregnancy can be shown to have caused the malformation.

Most of the time, the cause for an anorectal malformation is unknown. Rarely, autosomal recessive inheritance has been observed in some studies. This means that each parent unknowingly carries a gene for the condition, and the baby receives both copies of the gene. Couples who are gene carriers have a one in four or 25 percent chance for the malformation to reoccur in a future pregnancy. Up to one third of babies who have genetic syndromes, chromosomal abnormalities, or other congenital defects also have anorectal malformations.

Anorectal malformations occur in about 1 in 5,000 live births. Boys are at a slightly higher risk for this abnormality than girls.

Anorectal malformations cause abnormalities in the way a baby has a bowel movement. These problems will vary depending on the type of malformation.

When the anal passage is narrow, a baby may have a difficult time passing a bowel movement, causing constipation and possibly discomfort. If there is a membrane over the anal opening, the baby may be unable to have a bowel movement.

“Ano” refers to the anus (the opening at the end of the large intestine through which stool passes when a baby has a bowel movement)

“Rectal” refers to the rectum (the area of the large intestine just above the anus)

When the rectum is not connected to the anus but there is a fistula present, stool will leave the baby’s body through the fistula instead of the anus. This can cause infections. If the rectum is not connected to the anus and there is not a fistula present, there is no way for stool to leave the intestine. The baby will be unable to have a bowel movement.

Your baby’s physician will perform a physical examination when your baby is born, and will look at the anus to see if it is open. Diagnostic imaging tests may be performed to further evaluate the problem, including:

1. Abdominal x-rays – diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
2. Abdominal ultrasound (Also called sonography.) – a diagnostic imaging technique which uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs. (Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels.)
3. Computed tomography scan (Also called a CT or CAT scan.) – a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.

The treatment of an anorectal malformation may depend on the following:

• The extent of the problem
• The overall health of the baby and medical history.
• The opinion of the physicians involved in the baby’s care
• Expectations for the course of the disease
• Your opinion and preference

The majority of babies with an anorectal malformation will need to have surgery to correct the problem. The type and number of operations necessary depends on the type of abnormality the baby has, including the following:

1. Narrow anal passage
Babies who have the type of malformation that causes the anal passage to be narrow may not need an operation. A procedure known as anal dilatation may need to be performed periodically to help stretch the anal muscles so stool can pass through.
2. Anal membrane
Babies with this type of malformation will have the membrane removed in surgery. Anal dilatations may need to be performed to help with any narrowing of the anal passage that is present.
3. Lack of rectal/anal connection, with or without a fistula
These babies will need a series of operations in order to have the malformation repaired.

Toilet training should be started at the usual age, which is generally when the child is between two and three years old. However, children who have had anorectal malformations repaired may be slower than others to gain bowel control. Some children may not be able to gain good control over their bowel movements, while others may be chronically constipated, depending on the type of malformation and its repair. Your child’s physician can explain the outlook for your child.

Children who had the type of malformation that involves an anal membrane or a narrow anal passage are usually able to gain good control over their bowel movements after repair of an anorectal malformation. Children with more complex variations of an anorectal malformation may have need to participate in a bowel management program in order to help them have control over their bowel movements and prevent constipation. The nurses and other healthcare professionals that work with your child’s physicians can help tailor a program to your child’s needs.

Is an omphalocele is a birth defect, which is an abnormality that occurs before birth as a fetus is forming in its mother’s uterus. Some of the abdominal organs protrude through an opening in the abdominal muscles in the area of the umbilical cord. A translucent membrane covers the protruding organs.

The omphalocele may be small, with only a portion of the intestine protruding outside the abdominal cavity, or large, with most of the abdominal organs (including intestine, liver, and spleen) present outside the abdominal cavity. Further, the abdominal cavity itself may be small due to underdevelopment during pregnancy.

As a fetus is growing in the mother’s uterus before birth, different organ systems are developing and maturing. Between the 6th and the 10th weeks of pregnancy, the intestines actually project into the umbilical cord as they are growing. By the 11th week of development, the intestines should return to the abdomen. When the fetus is growing and developing during pregnancy, there is a small opening in the abdominal muscles that the umbilical cord can pass through, connecting the mother to the fetus. As the fetus matures, the abdominal muscles should meet in the middle and grow together, closing off this opening. An omphalocele occurs when the abdominal organs do not return to the abdominal cavity as they should.
It is not known what causes omphalocele. Steps that normally happen in the development of the abdominal organs and muscles simply did not happen properly. It is not known to be caused by anything the mother did during pregnancy.

When an omphalocele is isolated (no other birth defects are present), the risk for it to happen in a future pregnancy is one percent or one in 100. There are some families that have been reported to have an omphalocele inherited as an autosomal dominant or X-linked recessive trait. In these cases, the chance for reoccurrence would be higher.

Many babies born with an omphalocele also have other abnormalities. The chance for reoccurrence depends upon the underlying disorder. Thirty percent have a chromosomal (genetic) abnormality, most commonly Trisomy 13, Trisomy 18, Trisomy 21, Turner syndrome, or triploidy.

Some infants with omphalocele have a syndrome known as Beckwith-Wiedemann syndrome.
More than half of babies with omphalocele have abnormalities of other organs or body parts, most commonly the spine, digestive system, heart, urinary system, and limbs.

A “small” type omphalocele (involving protrusion of a small portion of the intestine only) occurs in one out of every 5,000 live births. A “large” type omphalocele (involving protrusion of the intestines, liver, and other organs) occurs in one out of every 10,000 live births. More boys than girls are affected with omphalocele.
Since some or all of the abdominal organs are outside the body, infection is a concern, especially if the protective membrane around the organs breaks. Also, an organ may lose its blood supply if it becomes pinched or twisted. A loss of blood flow can damage the affected organ.

Omphalocele can often be detected on fetal ultrasound in the second and third trimesters of pregnancy. A fetal echocardiogram (ultrasound of the heart) may also be done to check for heart abnormalities before the baby is born. After birth, the omphalocele can be noted by the physician during the physical examination. X-rays (diagnostic tests which use invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film) may also be done after birth to evaluate abnormalities of other organs or body parts.

Specific treatment for an omphalocele will be determined by your baby’s physician based on the following:
your baby’s gestational age, overall health, and medical history the extent of the condition
your baby’s tolerance for specific medications, procedures, or therapies expectations for the course of the condition your opinion and preference.,/p>

For a “small” omphalocele (only a portion of the intestine protruding outside the abdominal cavity), shortly after birth, an operation is done to return the organs to the abdomen and close the opening in the abdominal wall.

For a “large” omphalocele (most of the abdominal organs, including intestine, liver, and spleen are present outside the abdominal cavity), the repair is done in “stages” and may include the following:
Initially, sterile, protective sheeting is placed over the abdominal organs. Because the abdomen may be small and underdeveloped, it may not be able to hold all of the organs at once. Therefore, the exposed organs are gradually moved back into the abdomen over several days or weeks. The abdominal wall is closed surgically once the organs have been returned to the abdominal cavity. Also because of underdevelopment and small size of the abdominal cavity the organs may be swollen, a baby with an omphalocele may have breathing difficulties as the organs are returned to the abdomen. Your baby may need help from a breathing machine called a mechanical ventilator while the swelling is decreasing and the size of the abdominal cavity is increasing.

Problems in the future often depend on:

• The size of the omphalocele.
• If there was a loss of blood flow to part of the intestine or other organs.

the extent of other abnormalities.

Babies who have damage to the intestines or other abdominal organs may have long-term problems with digestion, elimination, and infection.

Pyloric Stenosis

What is pyloric stenosis?

Pyloric stenosis is a problem that affects babies between 2 and 8 weeks of age and causes forceful vomiting that can lead to dehydration. It is the second most common problem requiring surgery in newborns.

The lower portion of the stomach that connects to the small intestine is known as the pylorus. In pyloric stenosis, the muscles in this part of the stomach enlarge, narrowing the opening of the pylorus and eventually preventing food from moving from the stomach to the intestine.

What causes pyloric stenosis?

Pyloric stenosis (PS) is considered a “multifactorial trait.” Multifactorial inheritance means that “many factors” (multifactorial) are involved in causing a birth defect. The factors are usually both genetic and environmental. Often one gender (either males or females) is affected more frequently than the other in multifactorial traits. There appears to be a different “threshold of expression,” which means that one gender is more likely to show the problem, over the other gender. For example, pyloric stenosis is four times more common in males than females. Once a child has been born with pyloric stenosis, the chance for it to happen again depends upon the gender of the child already born with the condition, as well as the gender of the next child.

Which babies are at higher risk for pyloric stenosis?

• Two to three out of 1,000 infants are affected by pyloric stenosis (PS).
• Babies 2 to 8 weeks old are at the highest risk.
• Caucasians seem to develop pyloric stenosis more frequently than babies of other races.
• Boys develop pyloric stenosis four to five times more often than girls.
• Pyloric stenosis may be inherited; several members of a family may have had this problem in infancy.

Why is pyloric stenosis of concern?

Because the stomach opening becomes blocked and babies start vomiting, several problems can happen. The most serious problem is dehydration. When a baby vomits regularly, he/she will not get enough fluids to meet his/her nutritional needs. Babies have smaller bodies than adults and cannot tolerate losing fluid as easily as adults can. Minerals that the body needs to stay healthy, such as potassium and sodium, are also lost as the baby vomits. Babies who lack the right amount of water and minerals in their bodies can become very sick very quickly.

Another problem that occurs is weight loss. A baby who vomits most of (or all of) his/her feedings will not have adequate nutrition to gain weight and stay healthy.

What are the symptoms of pyloric stenosis?

The most common symptoms noted in a baby with pyloric stenosis is forceful, projectile vomiting. This kind of vomiting is different from a “wet burp” that a baby may have at the end of a feeding. Large amounts of breast milk or formula are vomited, and may go several feet across a room. The baby is usually quite hungry and eats or nurses eagerly. The milk is sometimes curdled in appearance, because as the milk remains in the stomach and does not move forward to the small intestine, the stomach acid “curdles” it.

Other symptoms may include:

• weight loss
• lack of energy
• fewer bowel movements
• constipation
• frequent, mucous stools

The symptoms of pyloric stenosis may resemble other conditions or medical problems. Always consult your child’s physician for a diagnosis.

How is pyloric stenosis diagnosed?

In addition to a complete medical history and physical examination, diagnostic procedures for pyloric stenosis may include:

• blood tests – to evaluate dehydration and mineral imbalances.
• abdominal x-rays – a diagnostic test which uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
• abdominal ultrasound - a diagnostic imaging technique which uses high-frequency sound waves and a computer to create images of blood vessels, tissues, and organs. Ultrasounds are used to view internal organs as they function, and to assess blood flow through various vessels.
• barium swallow / upper GI series – a diagnostic test that examines the organs of the upper part of the digestive system: the esophagus, stomach, and duodenum (the first section of the small intestine). A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray) is swallowed. X-rays are then taken to evaluate the digestive organs.

Treatment for pyloric stenosis:

Specific treatment for pyloric stenosis will be determined by your baby’s physician based on:
your baby’s gestational age, overall health, and medical history the extent of the problem
your baby’s tolerance for specific medications, procedures, or therapies expectation for the course of the problem your opinion and preference Pyloric stenosis must be repaired with an operation.

However, physicians may need to treat your baby’s dehydration and mineral imbalances first. Water and minerals can be replaced through intravenous (IV) fluid. Once your baby is no longer dehydrated, surgery can be performed. Under anesthesia, a small incision is made above the navel and the tight pyloric muscle is repaired.

Babies can often begin drinking small amounts of clear liquids in the first 24 hours. Generally, clear liquids such as an electrolyte drink will be given to your baby first. However, babies may still vomit for several days after surgery due to swelling of the surgical site of the pyloric muscle. The swelling goes away within a few days.

Most babies will be taking their normal feedings by the time they go home. Babies are usually able to go home within two to three days after the operation.

What is the long-term prognosis for pyloric stenosis?

This problem is unlikely to reoccur. Babies who have undergone the surgery should have no long-term effects from it.

What is panhypopituitarism?


Hypopituitarism refers to a deficiency of one or more of the hormones secreted by the anterior pituitary gland. Panhypopituitarism refers to an absence of all hormones released by the pituitary gland.

Pituitary insufficiency in the adult is most commonly caused by a nonfunctioning tumor, surgical removal or irradiation of the pituitary gland.
What are the symptoms? 
The lack of pituitary hormones results in a reduction in the hormones released by the target glands (i.e. thyroid, adrenals and gonads). When hypo- or pan- hypopituitarism results from inherent disease or irradiation, symptoms develop gradually. After surgery, symptoms of adrenal sufficiency can develop within days, and hypothyroidism after only a month.

In panhypopituitarism facial and body hair decrease and reproductive organs and muscle tissue shrivel. There can be loss of libido, impotency, amennorhea, and infertility. Hypoglycemia may occur due to a deficiency of growth hormone. There is also a loss of normal skin pigmentation, which can become pale and waxy in appearance. Wrinkles may develop around the eyes and mouth making the person appear older than normal. When pituitary deficiency is severe there is extreme weight loss, emaciation, with eventual coma, and if untreated, death.

How is it treated? 
Because pituitary hormones are destroyed in the gastrointestinal tract, treatment of hypopituitarism involves replacement of the deficient hormones of the target organs. Additionally, within the last five years the FDA approved growth hormone for treatment in those with panhypopituitarism. Growth hormone is self-administered by injection, subcutaneously, on a daily basis.