Before and after fistula repair Tracheoesohpagealfistula

An omphalocele is an abdominal wall defect at the base of the umbilical cord (umbilicus); the infant is born with sac protruding through the defect which contains small intestine, liver, and large intestine.

An omphalocele is a relatively frequent abnormality of the newborn that occurs in approximately 1 out of 5,000 births. The intestines can be easily visualized through the thin translucent peritoneal membrane

An omphalocele is considered a surgical emergency. The primary considerations are infection and drying of the contents. The abdominal cavity may be small and unable to contain the external portion of the gut. First, the omphalocele is covered with a sack of biocompatible synthetic material, suturing it to the margins of the abdominal defect and slowly over time decreasing the volume of the synthetic sack covering the omphalocele. This causes the abdomen to stretch. When the omphalocele can comfortably fit within the abdominal cavity, the synthetic material is removed and the abdomen is closed.

Immediately after delivery, the exposed organs are covered with warm, moist, sterile dressings. A tube is inserted into the stomach (nasogastric tube, also called NG tube) to keep the stomach empty to prevent choking on or breathing in (aspiration) stomach contents into the lungs. The surgery is done as soon as the infant is stable. While the baby is deep asleep and pain-free (under general anesthesia) an incision is made to remove the sac membrane. The bowel is examined closely for signs of damage or additional birth defects. Damaged or defective portions are removed and the healthy edges stitched together. A tube is inserted into the stomach (gastrostomy tube) and out through the skin. The organs are replaced into the abdominal cavity and the incision closed, if possible.

The infant is cared for post-operatively in a neonatal intensive care unit. The baby is placed in an isolette (incubator) to keep warm and prevent infection. Oxygen is given and mechanical ventilation is often required. Intravenous fluids, antibiotics, and pain medications will be given. A nasogastric tube will be in place to keep the stomach emptied of gastric secretions. Feedings are started by nasogastric tube as soon as bowel function resumes. Feedings are started very slowly and often infants are reluctant to feed. These babies may need feeding therapy and lots of encouragement.

Gastroschisis is an abdominal wall defect to the side of the umbilical cord (umbilicus). The infant is born with intestines protruding through the defect and no protective sac is present. Gastroschisis is rarely associated with other birth defects. Gastroschisis is a life-threatening event requiring immediate intervention.

Omphalocele the intestinesprotrude into the base ofthe umbilical cord XSGastroschisis next to theumbilical cord but notinvolving the cord

Gastroschisis: immediately after birth exposed part it wrapped in sterile normalSaline soaked gauze. New method of tx: plastic “silo” slowly compressed over the next week (much like a tube of toothpaste, & intestines are carefully pushed back intoabdomen. Surgeons then stitch the opening close. Infants are feed IV for 2-5 wks or

until normal bowel

functionbegins

Surgical repair of abdominal wall defects involves replacing the abdominal organs back into the abdomen through the abdominal wall defect, repairing the defect if possible, or creating a sterile pouch to protect the intestines while they are gradually pushed back into the abdomen. Immediately after delivery, the exposed organs are covered with warm, moist, sterile dressings. A tube is inserted into the stomach (nasogastric tube, also called NG tube) to keep the stomach empty and to prevent choking on or breathing in of stomach contents into the lungs. While the infant is deep asleep and pain-free (under general anesthesia) an incision is made to enlarge the hole in the abdominal wall. The intestines are examined closely for signs of damage or additional birth defects. Damaged or defective portions are removed and the healthy edges stitched together. A tube is inserted into the stomach and out through the skin. The organs are replaced into the abdominal cavity and the incision closed, if possible. If the abdominal cavity is too small or the protruding organs are too swollen to allow the skin to be closed, a pouch will be made from a sheet of plastic to cover and protect the organs. Complete closure may be done over a few weeks. Surgery may be necessary to repair the abdominal muscles at a later time. The infant’s abdomen may be smaller than normal. Placing the abdominal organs into the abdomen increases the pressure within the abdominal cavity and can cause breathing difficulties. The infant may require the use of a breathing tube and machine (ventilator) for a few days or weeks until the swelling of the abdominal organs has decreased and the size of the abdomen has increased.

Imperforate anus is a malformation of the anorectal region that may occur in several forms. The rectum may end in a blind pouch that does not connect with the colon, or it may have openings to the urethra, bladder, or vagina. A condition of stenosis, or narrowing of the anus, or absence of the anus may be present.

Anorectal malformations; Anal atresia

Imperforate anus is a relatively common congenital malformation that occurs in about 1 out of 5,000 infants.

signs & symptoms•absence of anal opening •misplaced anal opening •anal opening very near the vaginal opening in the female •no passage of first stool within 24 to 48 hours after birth •stool passed by way of vagina or urethra •Abdomianl distention•vomiting if infant is fed

The cause is unknown but genetic factors may play a role. Problems resulting from very mild developmental dysplasia of the hip may not become apparent until the person is in their 30’s or 40’s. One or both hips may be involved. Risk factors include being the first child, being female, a breech delivery, and a family history of the disorder. It occurs in about 1 out of 1,000 births.

Signs & symptoma•Asymmetry in leg positions •Asymmetry of the thigh fat folds •After 3 months of age, asymmetry of rotation of the leg and apparent shortening of the affected leg •Diminished movement in the affected side

Note: There may be no symptoms.

Signs & testsPediatricians routinely screen all newborns and infants for hip dysplasia. There are several maneuvers that can detect a dislocated hip or a hip that is able to be dislocated. A hip that is truly dislocated in an infant should be picked up but some cases are subtle and some develop after birth, which is why multiple examinations are recommended. Some mild cases are "silent"; and cannot be picked up on physical exam.

Ultrasound of the hip is the most important imaging study and will demonstrate hip deformity. A hip X-ray joint X-ray) is helpful in older infants and children.

TreatmentIn early infancy, positioning with a device to keep the legs apart and turned outward (frog-leg position) will usually hold the femoral head in the socket. If there is difficulty in maintaining proper position, a plaster cast may be applied and changed periodically to accommodate growth. Operative management may be necessary if early measures to reduce the joint (put the joint back in place) are unsuccessful, or if the defect is first detected in an older child.

PrognosisIf the dysplasia is picked up in the first few months of life, it can almost always be treated successfully with bracing. In a few cases surgery is necessary to put the hip back in joint.The older the age at diagnosis, the worse the outcome and the bigger the surgery needed to repair the problem.

Talipes equinovarus; Talipes or Clubfoot

Clubfoot is the most common congenital disorder of the lower extremity. It can range from mild and flexible to severe and rigid. In all forms the foot turns downward and inward. Genetic and environmental factors in the development of the fetus are the apparent causes. One or both feet may be affected. Risk factors include a family history of the disorder and being male. The incidence is 1 per 1,000 live

Signs & Symtptoms:The physical appearance of the deformity may vary.

•one or both feet may be affected •foot turns inward and downward at birth

•tight in deformed position and resists realignment•calf muscle may be smaller and underdeveloped

Treatment should be initiated as early as possible.

Clubfoot deformities may be corrected by manipulating the foot into a correct position, and casting the foot to maintain the correction. This is often done by an orthopedic specialist. The treatment is started early in the newborn when the foot is easiest to reshape. Repositioning and recasting occurs every few weeks to improve the position of the foot. After the shape of the foot is realigned, it is maintained through exercise, splints at night, and orthopedic shoes. Correction using this approach takes about 3 months.

Some severe deformities will require surgery if manipulation does not achieve correction. Continued evaluation is recommended until the foot is fully grown.

Polydactyly

Fingers or toes (digits) may be fused together (syndactyly) or the webbing between them (inter-digital webbing) may extend far up the digits. Syndactyly is seen commonly between the 2nd and 3rd toes, and is usually associated with a syndrome.

a relatively common abnormality of the penis that appears as an abnormal opening of the penis (meatus) on the under side of the penis rather than at the end

Hypospadias is a congenital defect that may affect up to 3 out of 1,000 newborns. Hypospadias varies in severity. In most cases, the penis opening is located near the tip of the penis on the glans (bulb). More severe forms of hypospadias occur when the penile opening is midshaft or base of the penis and occasionally in the scrotum or perineum (underneath the scrotum). This anomaly is often associated with chordee, a tight fibrous band that results in a downward curvature of the penis seen with penile erection.

Signs & symptoms•Opening of the penis is NOT at the tip of the penis but is displaced to the downward side or bottom of the penis •Penis has a marked curvature downward •Penis looks hooded due to malformation of the foreskin •Child has to sit down to void

TreatmentInfants with hypospadias should not be circumcised. The foreskin should be preserved for use in later surgical repair. Surgery is usually completed before the child starts school. Today, most urologists recommend repair before 18 months of age.During the surgery, the penis is straightened and the hypospadias defect is corrected surgically often using tissue grafts obtained from the intact foreskin.The repair may need to be performed in stages requiring multiple operations.

Results after surgery are typically good, both cosmetically and functionally.Approximately 10-20% of the operations require revision for fistulas (leaks) and chordee recurrence

A rare congenital defect that affects males in which the urethra opens on the top (dorsal) surface of the penis

Epispadias

Epispadias occurs in one of three forms. The urethra may open on top of the head of the penis; the entire urethra may be open the full length of the penis, or the entire urethra may be open with the bladder opening on the abdominal wall. A similar condition can exist in females, but this is rare.

This MRI scan shows a tumor (teratoma) at the base of the spine (seen on the left lower edge of the screen), located in the sacrum and coccyx (sacrococcygeal) area. Teratomas are present at birth and may contain hair, teeth, and other tissues.

Cancerous cells that form cysts that contain one or more of the three primary embryonic germ layers: skin, hair, and teeth.

Malignant teratoma

Inborn errors of metabolism

TYPES & OTHER NAMES:Galactosemia - nutritional considerations; Fructose intolerance - nutritional considerations; Maple sugar urine disease (MSUD) - nutritional considerations; Phenylketonuria (PKU) - nutritional considerations; Branched chain ketoaciduria - nutritional considerations

DEFINATION:Genetic disorders (numbering in the dozens) in which the body cannot metabolize food components normally. These disorders usually involve minute changes in the breakdown of proteins, fats and carbohydrates. The body can become malnourished even when eating a well-balanced diet. See also galactosemia, PKU, lactose intolerance, and maple syrup urine disease

RECOMMENDATIONInborn errors of metabolism often demand diet changes. The type and extent of the changes depends the specific metabolic error. Registered dietitians and physicians can help with the diet modifications needed for each disease.

An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to the liver, central nervous system and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.

Galactosemia is an inherited disorder (transmitted as an autosomal recessive trait). It occurs at a rate of approximately 1 out of 60,000 births. There are two forms of the disease, galactose-1 phosphate uridyl transferase deficiency (classic galactosemia) and galactose kinase deficiency. Of the two, the galactose-1-phosphate deficiency is the most severe. People with galactosemia are unable to metabolise the simple sugar galactose. Galactose makes up half of the sugar called lactose that is found in milk. Lactose is called a disaccharide, di meaning 2, since lactose is made up of two sugars, galactose and glucose, bound together. If an infant with galactosemia is given milk, galactose builds up in the infants system causing damage to the liver, brain, kidneys and eyes. Individuals with galactosemis cannot tolerate any form of milk (human or otherwise) or any other galactose-containing food. Exposure to milk products will result in liver damage, mental retardation, cataract formation, and kidney failure.

Symptoms

•jaundice (yellowish discoloration of the skin and the whites of the eyes) •vomiting •poor feedig •poor weight gain •lethargy •irritability •convulsions •pupil, white spots

Signs & tests

•hepatomegaly (enlarged liver) •hypoglycemia (low blood sugar) •aminoaciduria (amino acids are present in the urine) •cirrhosis •ascites (fluid collects in the abdomen) •mental retardation •cataract formation

Galactosemia

PRGNOSIS:Once the disease is recognized, treatment consists of strictly avoiding all milk and milk containing products. The infant can be fed with soy formula, meat-base formula, or Nutramigen (a protein hydrolysate formula) or other lactose-free formula. The condition is life-long and requires abstinence from milk and milk products for life. Parents need to take care and educate the child to avoid not only milk and milk products, but also those foods that contain dry milk products. For this reason, it is essential to read product labels and be an informed consumer.

Phenylketonuria

A rare hereditary condition in which the amino acid phenylalanine is not properly metabolized; this can cause severe mental retardation.

PKU is inherited as an autosomal recessive trait. PKU occurs about once out of 16,000 births in the United States and is distributed equally between the sexes. Because PKU can be easily detected by a simple blood test and it is a treatable disease, most states require a screening test for all newborns. The genetically determined abnormality in phenylketonuria is a missing enzyme, phenylalanine hydroxylase.

Phenylalanine is one of the eight essential amino acids found in protein-containing foods. In PKU, phenylalanine cannot be used in a normal fashion because of the missing enzyme. Subsequently, high levels of phenylalanine and two closely related phenylalanine derivatives develop. These compounds are toxic to the central nervous system and cause brain damage.

Damage to the brain causes marked mental retardation by the end of the first year of life. Older children may develop movement disorders (athetosis), rocking, and hyperactivity. Because phenylalanine is involved indirectly in the production of melanin, the pigment responsible for skin and hair color, children with phenylketonuria often have lighter complexions than their unaffected siblings (PKU children often have blond hair and blue eyed). These children may have an odor described as mouse-like that results from the accumulation of phenylacetic acid. This odor may be detected on their breath, skin, and urine.

Causes & risks

SIGNS & SYMPTOMS OF PKU•skin rashes (eczema) •microcephaly •tremors •jerking movements of the arms or legs (spasticity) •unusual hand posturing •seizures •hyperactivit •delayed mental and social skills •mental retardation •an offensive odor to the urine and sweat ("mousy" odor) •light coloration (frequent finding of light complexion, blond hair, and blue eyes)

Treatment includes a diet that is very low in, or free of, phenylalanine; particularly when the child is growing. Strict compliance to the diet is necessary to reduce or prevent mental retardation. This requires close supervision by a registered dietitian or physician, and cooperation of the parent(s) and child.

Phenylalanine occurs in significant amounts in milk, eggs, and other common foods. Nutrasweet (aspartame) also contains phenylalanine, and products containing aspartame should be avoided for children with this disorder. A special infant formula called Lofenalac is made for infants with PKU. It can be used throughout life as a protein source that is extremely low in phenylalanine and balanced for the remaining essential amino acids.Adult women who have PKU and who plan to become pregnant should also adhere to a strict low-phenylalanine diet both before becoming pregnant and throughout the pregnancy.

Trisomy 18 also known as Edwards syndrome

Trisomy 18 is a relatively common syndrome affecting approximately 1 out of 8,000 live births and affecting girls more than twice as often as boys. Multiple abnormalities are associated with the presence of an extra number 18 chromosome, many which are not compatible with more than a few months of life. Few infants survive beyond the first year.

Common findings include low birth weight, mental retardation, low-set ears, malformed ears, small jaw (micrognathia), hand abnormalities, congenital heart disease, hernias, and cryptorchidism. There may be many other abnormalities noted.

The abnormalities of trisomy 18 are generally not compatible with more than a few months of life. Fifty per-cent of the affected infants do not survive beyond 2 months

•the mother’s pregnant uterus appears unusually large •low birth weight infant •mental deficiency •low-set ears (see pinna abnormalities and low set ears) •small jaw (micrognathia) •clenched hands •abnormal fingerprints (dermal ridge patterns) •hypoplastic (underdeveloped) fingernails •umbilical hernia •diastasis recti •inguinal hernia •cryptorchidism (male) •crossed legs (preferred position) •congenital heart disease

•VSD (ventricular septal defect) •ASD (atrial septal defect•PDA (patent ductus arteriosus)

•congenital kidney abnormalities •horseshoe kidney •hydronephrosis •polycystic kidny

•coloboma of iris •microcephaly •motormental retardation •pectus carinatum

SIGNS & SYMPTOMS OF EDWARDS

Down syndrome; Trisomy 21; Mongolism A chromosome abnormality resulting in mental retardation and other abnormalities

In most cases, Down syndrome is caused by an extra chromosome 21. Downs children have a widely recognized characteristic appearance. The head may be smaller than normal (microcephaly) and abnormally shaped. Prominent facial features include a flattened nose, protruding tongue, and upward slanting eyes (Mongolian slant). The inner corner of the eyes may have a rounded fold of skin (epicanthal fold) rather than coming to a point. The hands are short and broad with short fingers and often have a single palmar crease (simian crease). Retardation of normal growth and development is typical and most affected children never reach average adult height. The average mental age achieved is 8 years old.

Congenital heart defects are frequently present in these infants. Early mortality is often a result of cardiac abnormalities. Gastrointestinal abnormalities such as esophageal atresia (obstruction of the esophagus) and duodenal atresia (obstruction of the duodenum) are also relatively common. Obstruction of the gastrointestinal tract may require major surgery shortly after birth. Children with Down’s syndrome also have a higher than average incidence of acute lymphocytic leukemia (ALL).

SIGNS & SYMPTOMS OF DOWNS•decreased muscle tone at birth •sutures - separated •asymmetrical or odd-shaped skull

•round head with flat area at the back of the head (occiput) •small skull (microcephaly)

•slanting eyes, unusual for ethnic group (often called Mongolian slant or upward slant) •small mouth with protruding tongue (see tongue problems) •broad short hands •single crease on the palm (simian crease) •retarded growth and development •delayed mental and social skills (mental retardation) •iris lesion (an abnormality of the colored part of the eye, called Brushfield spots)

COMPLICATIONS:•vision problems •hearing loss•increased incidence of acute leukemia •frequent ear infections •increased susceptibility to infection •gastrointestinal obstruction (imperforate anus, and similar problems) •cardiac abnormalities •esophageal atresia •duodenal atresia •other gastrointestinal abnormalities

Hypotonia is often a sign of abnormality in the case of a newborn or older infant, and may suggest the presence of central nervous system dysfunction, genetic disorders, or muscle disorders. Hypotonic infants rest with their elbows and knees loosely extended, while infants with normal tone tend to have flexed elbows and knees. Head control may be poor or absent in the floppy infant with the head falling to the side, backward or forward.

Fingers or toes (digits) may be fused together (syndactyly) or the webbing between them (inter-digital webbing) may extend far up the digits. Syndactyly is seen commonly between the 2nd and 3rd toes, and is usually associated with a syndrome.

Common autosomal aberrations

DefinitionsOf Ventilatorterminology