Before and after fistula repair

Tracheoesohpageal
fistula

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 intestines
protrude into the base of
the umbilical cord XS
Gastroschisis next to the
umbilical cord but not
involving the cord
Gastroschisis: immediately after birth exposed part it wrapped in sterile normal
Saline 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 into
abdomen. Surgeons then stitch the opening close. Infants are feed IV for 2-5 wks or
until normal
bowel
function
begins
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 infants 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 30s or 40s. 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 & tests
Pediatricians 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.

Treatment
In 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.

Prognosis
If 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

Treatment
Infants 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
RECOMMENDATION
Inborn 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 mothers 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 Downs 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
Definitions
Of Ventilator
terminology