Reported By: Hermae Angelic E.

Guleng

Congenital

Malformation of the lower extremity that affects the lower leg, ankle and foot. Defect may be unilateral and bilateral Defects are rigid and cannot be manipulated into a neutral position.

Boys

are commonly affected. Genetic factor Abnormal tendon insertion Retracting fibrosis (myofibrosis) Neurogenic factors Oligohydramios Diminished Vascular Circulation

 Plantar

flexed foot with an inverted heel and adducted forefoot, Unilateral, bilateral defect Rigid limb that cannot be manipulated into a neutral position Clubfoot is distinguished from metatarsus adductus, non rigid deviation of the forefoot.

 Physical

Examination- Twisted foot appearance should be assessed and gently manipulated. If the straightened foot does not move to a normal position, true clubfoot is present. Radiography- Use of x-rays is definitive diagnosis for clubfoot as it determines abnormal bone anatomy and assesses the treatment efficiency.

CLUB FOOT

Categories of treatment:
For

mild cases: manipulation, cast and splint application (nonsurgical management)

severe cases: surgery

For

Ponseti Method Applies certain techniques to reduce and correct the deformity to promote normal foot mobility and position. Methods used are the following Manipulation - Slightly pivoting the bones and stretching the soft tissue Placement of above the knee cast Denis Brown Splints (shoes or boots attached to a bar) are used 23 hours each day for 3 months to maintain the normal foot alignment. For the next 2-4 years the splint is fitted during naps and nighttime only.Passive foot exercises (full range-of-motion) are executed by the primary caregiver to further maintain the position.

ABOVE THE KNEE CAST

DENIS BROWN SPLINT

 Ilizarov

Technique Method used for complex ankle-foot deformity. Ilizarov frames, the circular structure placed around the limb, are used in this technique which are attached to metal pins and are inserted through the bone. A frame is individually made for each patient and weighs approximately 7 lbs. Placement of the frame requires the administration of a general anesthetic and the procedure may last for several hours

ILIZAROVE FRAME

 Posteromedial

Release- The last option for a clubfoot is the release of all tight tendons and ligaments in the posterior and medial parts of the foot. The structures are then put back together in a lengthened position. Tendon Transplant- Done at 4-7 years of age when other corrective measures have been ineffective.

 Obtain

a family and obstetric history for risk factors. After delivery, assess the ankle and foot for a true talipes deformity by straightening the foot. Pseudo-talipes can be realigned to a normal position. For infants with cast assess for circulation, redness and swelling distal from the cast and foul odor. Monitor the infants temperature (for those who underwent tenotomy or surgery). Fever is the first sign of infection

 Keep

the cast clean and dry by changing diapers frequently. Use a damp cloth and dry cleansers in wiping. Water and soap causes breakdown of cast particles. Place a pillow or padding under the casted area to prevent cast damage and prevent sores from heel pressure. For children with traction, check and cleanse the pin sites frequently. Explain to the parents the importance of passive foot exercises after the final cast is removed.

 Maintaining

the aligned position after the cast application is essential to prevent reoccurrence. Administer analgesics as ordered for pain relief after a surgical correction. Assess the neurovascular status of the toes at least every 1-2 hours in the immediate post operative period. Acetaminophen (Tylenol) is an analgesic and antipyretic given for pain relief after traction or tenotomy. Execution of passive foot exercises several times a day for several months to maintain the corrected foot alignment.

 Condition

in which the head of the femur is improperly seated in the acetabulum of tbhe pelvis Varies in severity from very mild to severe dislocation Dysplasia can be congenital or can develop after birth (developmental dysplasia)

CONGENITAL HIP DYSPLASIA

 Genetic

Factors and pre-natal/post-natal positioning seem to be implicated Laxity of the ligaments holding the femur head within the acetabulum may be under lying predisposing factor Family history of the disorder is the most significant predisposing factor Most common in first born infants Condition is associated with breech deliveries.

 There

is a limited range of motion in the affected hip, as well as asymmetric abduction when the child is placed supine with the knees and hips flexed. The femur on the affected side appears to be short The walking child displays minimal to pronounced variations in gait, with lurching toward the affected side

 After

3 months of age, the affected leg may turn outward or be shorter than the other leg. Neonates- laxity of ligaments around the hips, which allows the femoral head to be displaced from the acetabulum on manipulation.

 Infants

beyond the newborn period a. Assymetry of the gluteal and thigh skinfolds when the child is placed prone and the legs are extended against the examining table. b. Limited range of motion in affected hip c. abduction on the affected side is the major diagnostic sign d. apparent short femur on the affected side.

 Ortolani

Test- A positive sign is a distinctive 'clunk' which can be heard and felt as the femoral head relocates anteriorly into the acetabulum Barlow Maneuver Radiography- not useful in neonate because bony ossification is not complete, but it can be diagnostic in older infant. Ultrasonography- best done when the infant is 4 to 6 weeks old, now used to assist with the diagnosis of hip dysplasia. Computed Tomography (CT) / MRI

 Newborns-

Newborns are placed in a Pavlik harness for 1 to 2 months to treat DDH. This will help tighten the ligaments around the hip joint and promote normal hip socket formation. 1 to 6 months- The baby's thighbone is repositioned in the socket using a harness or similar device.

PAVLIK HARNESS

SPICA CAST

months to 2 years- The child is placed under anesthesia, and the thigh bone is manipulated into the proper position in the socket. Open surgery is sometimes necessary. Afterwards, the child is placed into a body cast (spica) to maintain the hip position. Older than 2 years- Deformities may worsen, making open surgery necessary to realign the hip. Afterwards, the child is placed into a body cast (spica) to maintain the hip in the socket.

 Placing

rolled cotton diapers or a pillow between the thighs, thereby keeping the knees in a frog like position Maintain proper positioning and alignment to limit further injury For infants who have splints, advise parents to maintain good diaper area care: change diaper frequently and wash the area Elevating the head of the bed helps urine and feces to drain downward and away from the cast.

 Monitor

childs neurovascular status frequently, and teach the family about the signs of neurovascular compromise (fever,wound drainage and discomforts are signs of infection) Expain the importance of feeding the child a diet high in fluids, calories, calcium, protein, and fiber An infant with a Pavlik harness can be fed in the usual positions with the parent carefully supporting the lower extremities during the feeding

PHENYLKETONURIA Genetic metabolic disorder that results in central nervous system damage from toxic levels of phenylalanine in the blood
A.
There

is deficiency of phenylalanine hydroxylase, enzyme needed to convert phenylalanine to tyrosine.

 Autosomal

recessive disorder manifested only on homozygote (individual who inherited 2 identical genes for specific trait) both parents carrying the recessive gene, each pregnancy has 25% chance that the child will have PKU

With

 Signs

may not be apparent until the infant is approximately 3 mos. First signs are digestive problems and vomiting In all children: Digestive Problems/vomiting Seizure Musty odor of the urine Mental retardation- Long term implication of untreated PKU

Older children Eczema Hypertonia Hypopigmentation of the hair, skin, and iresis Hyperactive behavior

Absence of enzyme phenylalanine hydroxylase

Toxic accumulation of Phenylalanine in the bloodstream after ingestion of protein containing phenylalanine Phenylalanine adversely affect the myelinization process in

CNS development Mental ret5ardation will

progress if treatment is not implemented.

DIAGNOSTIC EVALUATION: Routine Neonatal screening for PKU NURSING MANAGEMENT: Infants and children with PKU are treated with a special diet that restricts phenylalanine intake. Goal of treatment is to keep serum phenylalanine level at 2-6 mg/dl in infants and young children and 2-5 mg/dl in children older than 12 years. The infant is fed with low phenylalanine formula, the child must follow a proteinrestricted diet. The child avoids high protein foods, such as meats, fish, eggs, cheese, milk, and legumes.

 Because

protein is also present in grains, low protein breads, cereals and pastas are used. Dietary staples are vegetables, fruits and starches Follow-up is provided for all infants if the initial screening result is abnormal.

 Is

a condition in which the thyroid gland does not produce sufficient thyroid hormone to meet the bodys metabolic needs. condition is present from birth and if not treated, can lead to mental retardation.

The

 It

is caused by an absent (aplastic), underdeveloped, or ectopic thyroid gland For unknown reason, the fetal thyroid gland fails to developed properly or fails to migrate to the appropriate location Rare causes are hypothalamic or pituitary disorders in which TSH is insufficient to stimulate the thyroid gland Maternal intake of medication such as prophylthiouracil (PTU) during pregnancy

 Skin

mottling, large fontanel, large tongue, hypotonia, slow reflexes and distended abdomen Jaundice, lethargy, constipation, feeding problems, coldness to touch, umbilical hernia, hoarse cry, and excessive sleeping. The infant with congenital hypothyroidism may have none of these signs or symptoms,

DIAGNOSTIC EVALUATION: Usually diagnosed with new born screening NURSING MANAGEMENT: Treatment of Children with congenital Hypothyroidism consists of lifelong thyroid hormone replacement, usually in the form of levothyroxine It is given as a single daily oral dose that varies with body size. In general , infants with hypothyroidism are evaluated every 1 to 2 months for the first year of life and then every 3 to 6 months thereafter. The nurse should obtain accurate measurements of height, weight, and head circumference at each visit

 Levothyroxine

is given orally as a single daily dose. The medication can be dissolved in a small amount of water and is given by syringe or placed into the nipple of a baby bottle along with a small amount of formula. When the infant is older, the medication can be given in a spoonful of cereal or baby food If the infant or child vomits within 1 hour of taking medication, the dose should be readministred Teach the parents the signs and symptoms of both hypothyroidism and hyperthyroidism.

 Galactosemia

is a condition that affects the bodys ability to use or metabolize a simple sugar called galactose resulting in the accumulation of galactose 1-phosphate in the body ETIOLOGY: Galactosemia is a hereditary condition, caused by the lack of a liver enzyme that is required to metabolize Galactose his genetic disorder is transmitted as an autosomal recessive disease (a disease caused by the presence of two recessive mutant genes on an autosome) and is present in 1 out of 30,000 newborns.

 Jaundice,

Vomiting , Poor feeding (baby refusing to drink milk-containing formula) , Poor weight gain , Lethargy, Irritability , Convulsions Infants with Galactosemia will develop most of the above symptoms within days of drinking milk. Continued intake of milk and lactose products will lead to further complications such as liver cirrhosis, cataract in the eyes, damage to the kidney, and even the brain may be affected leaving the child mentally retarded

Classic Galactosemia- Excess galactose in the blood affects many parts of the body. Some of the organs that may be affected include the brain, eyes, liver and kidneys Mild Galactosemia- Children with mild galactosemia usually have symptoms that are less severe than seen in the classic form. Some have no symptoms at all and do not need treatment

 Newborn

screening test

Enzyme

activity in red blood cell can confirm the diagnosis

 Classic

galactosemia requires early and lifelong lactose restriction Restrict diet of infant to soy formulas as soon as possible Avoid products containing casein hydrolysates (components in milk-based formulas) because theycontain small quantities of bioavailable lactose galactosemia can be treated with galactose restriction in the first year of life

 The

infant must have a Lactose and galactose free

diet Newborns with galactosemia are given a special formula free of lactose Since children with galactosemia are not eating milk products, calcium intake may be too low. Therefore, children with galactosemia are often advised to take calcium supplements to ensure they receive enough calcium each day. Babies and young children with galactosemia usually need regular blood and urine tests. These tests are used to detect toxic substances made when galactosemia is not in good control.

 This

condition mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. In affected individuals in an enzyme called glucose-6phosphate dehydrogenase causes red blood cells to break down prematurely

Defect

 Hereditary,

commonly male are affected (X-

linked) Environmental factors (Medications, Food, Ilness)

Hemolytic Anemia Paleness, dizziness, headache, tea-colored urine, abdominal/back pain, difficulty of breathing Severe cases can lead to death Jaundice, mental retardation, enlarged spleen, kernicterus, DIAGNOSTIC TEST Coombs test- Coombs' test looks for antibodies that may bind to red blood cells and cause premature red blood cell destruction (hemolysis)

The first line of treatment for most infants with jaundice requiring intervention is phototherapy. The infant receiving phototherapy requires extra attention and care to the placement of lights to be therapeutic yet prevent chilling or burning the infant The most important measure is prevention avoidance of the drugs and foods that cause hemolysis. Vaccination against some common pathogens ( hepatitis A and hepatitis B) may prevent infection-induced attacks.

In the acute phase of hemolysis, blood transfusions might be necessary, or even dialysis in acute rena failure. Serum bilirubin levels above 25 mg/dL or higher at any time is a medical emergency and the infant should be evaluated immediately for exchange transfusion Blood transfusion is an important symptomatic measure, as the transfused red cells are generally not G6PD deficient and will live a normal lifespan in the recipient's circulation. Some patients may benefit from removal of the spleen (splenectomy) as this is an important site of red cell destruction.

Syndactyl Syndactyly, the most common congenital hand anomaly, is an abnormal connection of fingers or toes to one anotherthe digits are "webbed," and have failed to separate normally during development It most commonly involves the middle and ring fingers. In about 50% of cases, both hands are involved. Syndactyly may occur alone, or with other anomalies as part of a syndrome.
A.

 The

exact cause of the condition is unknown In some cases, close family members may share this condition. Syndactyly occurs when apotosis or programmed cell death during gestation is absent or incomplete.

 Complete

syndactyly occurs when the digits are joined all the way to their tips, while in incomplete syndactyly, the digits are joined only for part of their length Simple syndactyly means that the digits are joined by the skin and soft tissue only Complex syndactyly means that the bones of the digits are fused together

 Syndactyly

is treated surgically, with an operation that separates the digits using skin from the digits and, usually, skin grafts from the lower abdomen to cover the separated fingers When the small finger or thumb is involved, this operation is done at about six months of age, to avoid distortion of the adjacent ring or index finger with growth, since the thumb and small finer are shorter than their neighboring digits

 Polydactyly

literally means "extra digits." There is an extra thumb, small finger, or, less commonly, an extra digit in the central part of the hand. Polydactyly is one of the most common congenital hand anomalies.

 Polydactyly

occurs when this separation process is excessive, and an extra "segment" is created. This can be caused by a genetic abnormality or by environmental influences.

 Radial,

or pre-axial polydactyly - means that there is an extra thumb Ulnar, or post-axial polydactyly- means that there is an extra small finger; there may be a well-formed extra small finger, or just a poorly-formed extra digit attached by a thin stalk of soft tissue. Central polydactyly- means that the extra digit is in the central part of the hand, between the thumb and small finger.

RADIAL, OR PRE-AXIAL POLYDACTYLY

ULNAR, OR POST-AXIAL POLYDACTYLY

CENTRAL POLYDACTYLY

 Polydactyly

is treated surgically. In preaxial polydactyly, a single thumb must be reconstructed from the two duplicated, or split, thumbs. This procedure involves reconstructing the skin and soft tissues, the tendons, joints, and ligaments to create a single thumb. In postaxial polydactyly, when the extra digit is attached only by a narrow stalk of soft tissue, this may be removed either with a minor operation or, if the stalk is narrow enough, by ligating the stalk in the nursery.

 When

the extra digit is well-formed, the surgery is more involved and may involve reconstruction of soft tissues, tendons, joints, and ligaments as in preaxial polydactyly. Central polydactyly requires a complex surgical procedure to reconstruct the hand. Again, the soft tissues, tendons, ligaments, and joints must be reconstructed. In some of these cases, more than one operation is required.