POSTNATAL CARE

Postnatal care includes a systematic examination of the mother and the baby and appropriate advice was given to the mother during the postpartum period. The first postnatal examination is done and the advice is given on discharge of the patient from the hospital. This has already been discussed. The second routine postnatal examination is conducted at the end of 6th week postpartum.

Aims and Objectives:

·         To assess the health status of the mother. Medical disorders like diabetes, hypertension, thyroid disorders should be reassessed.

·         To detect and treat at the earliest any gynaecological condition arising out of obstetric legacy.

·         To note the progress of the baby including the immunization schedule for the infant.

·         To impart family planning guidance.

 Procedure:

• ·         Examination of the mother
• ·         Advice given to the mother
• ·         Examination of the baby and advice

Examination of the Mother:

 Routine examination includes recording weight, pallor, blood pressure and tone of the abdominal muscles and examination of the breast.

Pelvic examination should be done only when indicated. The following should be noted: A cervical smear may be taken for exfoliative cytological examination if this has not been done previously and insertion of the intrauterine contraceptive device may be done when desired.

Laboratory investigations (e.g. haemoglobin) depending on the clinical need may be advised.

Examination of the baby: This should be conducted by a paediatrician. In this respect, a well-attached baby clinic to the postpartum unit is an absolute necessity. The progress of the baby is evaluated and preventive or curative steps are to be taken. Immunization to the baby is started.

Advice is given:

(1) If the patient is in sound health she is allowed to do her usual duties.

(2) Postpartum exercises may be continued for another 4–6 weeks.

(3) Vaccination MMR, HepB,

(4) To evaluate the progress of the baby periodically and to continue breastfeeding for 6 months.

(5) Family planning counselling and guidance

Management of ailments: 

Additional investigation and appropriate therapy is given according to the abnormalities detected during the check-up. Management of some common gynaecological problems is given below. Some women need psychological support also.

 Irregular vaginal bleeding:

 It is not uncommon to encounter irregular or at times, heavy bleeding after 4–6 weeks following an  uneventful period after delivery. This is usually the first period especially in nonlactating women and simple assurance is enough. Persistence of bleeding dating back from childbirth is likely due to retained bits of conceptus and usually requires ultrasound examination followed by dilatation and curettage operation.

Leukorrhea

The profuse white discharge might be due to ill health, vaginitis, cervicitis or subinvolution. Improvement of the general health and specific therapy cure the condition.

Cervical ectopy (erosion)

Cervical ectopy met during this period without any symptom should not be treated surgically. Hormone-induced ectopy during pregnancy takes a longer time (about 12 weeks) to regress. Thus, asymptomatic ectopy should be examined again after 6 weeks and if it still persists, cauterization is to be considered.

 Backache:

 It is mostly due to sacroiliac or lumbosacral strain. Backache over the sacrum is likely due to pelvic pathology, but if it is over the lumbar region, it might be due to an orthopaedic condition and is often relieved by physiotherapy.

Retroversion seldom produces backache. If associated with subinvolution with symptoms, a pessary is inserted after correcting the position and is to be kept for about 2 months.

The slight degree of uterine descent with cystocele, stress incontinence and relaxed perineum are the common findings at this stage. These can be cured by effective pelvic floor exercise. 

Urinary and anal incontinence: The woman is examined for any sphincter injury. Perineal exercises are advised. Women with persistent symptom after 6 months need special investigations and surgical treatment

Bibliography 

This content is from various web sources and books 

POSTNATAL EXERCISE

Exercises Is a physical activity that is planned, structured and repetitive for the purpose of conditioning any part of the body.

 Importance of Post-Natal Exercises

·         Improve circulation

·         Strengthen pelvic floor muscle

·         Prevent backache

·         Strengthen the tummy muscles

Benefits of Exercises

·         Reduces the risk of developing heart disease, diabetes, and cancer

·         Reduces high blood pressure, high cholesterol

·         Reduces body weight, depression, anxiety and improves psychological wellbeing

·         Builds and maintains healthy muscles, bones and joints

DEEP BREATHING EXERCISE

·         Lie on bed with knees bent, with a pillow behind

·         Breathe in deeply through nose. Sigh out.

·         Repeat 5 times

Breathing exercises help to improve the circulation

FOOT AND ANKLE EXERCISE

·         Keep knees relaxed for both exercises.

·         Bend and stretch ankles vigorously up and down for 30 seconds.

·         Circle both feet 10 times in each direction.

·         Repeat these exercises frequently.

PELVIC FLOOR EXERCISE-KEGAL

·         Pelvic floor muscles are stretched during pregnancy and childbirth.

·         Strong pelvic floor muscles are essential to prevent leakage of urine when sneeze or cough, for enjoyable sexual intercourse and to give complete control of bowels.

·         Strong muscles will also help prevent developing a prolapsed womb

·         Can do this exercise standing, sitting or lying.

·         Pull the area around vagina up and down

·         The contraction should be held for 10 seconds(to a count of 6) and repeated upto10 times

·         The exercise should be continued for 2-3 months.

·         This exercise is especially important if mother have stitches.

·         It helps to improve the circulation and will help to heal quickly

PELVIC TILTING EXERCISE

·         Lie on a firm surface with knees bent and a comfortable pillow beneath the head

·         Pull in your tummy (inhale, while exhale flatten the back)

·         Press the lower part of back down flat

·         Hold for several seconds and repeat.

ABDOMINAL BREATHING

·         This is to strengthen the diaphragm

·         Take a deep breath, raising her abdominal wall and exhale slowly.

·         To ensure correct method ask to keep one hand on chest and one on abdomen.

·         While inhaling the hand on the abdomen should be raised and hand on the chest should remain stationary.

·         Repeat the exercise five times

HEAD AND SHOULDER RAISING

·         On the 2ndpost partum day-Lie flat and raise head until the chin is touching the chest.

·         On the 3 rd post partum day-raise both head and shoulder off the bed and lower them slowly , increase gradually

LEG RAISING

·         Begun on the 7^th post partum day

·         Lying down on the floor with no pillows under the head

·         Point toe and slowly raise one leg keeping the knee straight

·         Lower the leg slowly.

KNEE ROLLING

·         This is to strengthen the oblique abdominal muscles.

·         In back lying with knees bent, pull in the abdomen and roll both knees to one side as far is comfortable, keeping shoulders flat.

·         Return knees to upright position and relax the abdomen.

·         Pull in again and roll both knees to other side.

·         Perform 10 times

 HIP HITCHING OR LEG SHORTENING

·         In back lying with one knee bent and the other knee straight.

·         Slide the heel of the straight leg down word thus lengthening the leg.

·         Shorten the same leg by drawing the hip up towards the ribs on the same side.

·         Repeat up to 10 times

·         Change to the opposite side and repeat.

BIRTH INJURIES

BIRTH INJURIES

A birth injury is defined as any trauma or injury sustained during the course of delivering a child. They range in seriousness from minor bruising to severe infant brain damage. Many can be treated in the hospital or heal on their own in a few days or weeks. However, some result in life-long disability. The most severe trauma can cause stillbirth or the premature death of a child.

Signs and symptoms of a birth injury vary according to the type and severity of the condition. They may be subtle, such as the slight favoring of one side of the body over the other, so it is important to document any abnormalities you experience.

Types Of Birth Injury

some of the most common include:

·         Cerebral palsy

·         Infant brain injury

·         Shoulder dystocia

·         Erb's palsy (brachial plexus injury)

·         Persistent pulmonary hypertension of the newborn (PPHN)

·         Retinopathy

·         Cephalohematoma

·         Fractures

·         Bruising

·         Caput succedaneum

·         Paralysis

Symptoms of Birth Injury

Symptoms of birth injury include:

·         Paralysis

·         Unresponsiveness

·         Bruising

·         Deformities

·         Developmental delays

·         Extreme sleepiness

·         Excessive crying

·         Poor muscle control

Cerebral Palsy

Cerebral palsy patients have difficulty moving or maintaining balance and posture. The condition often does not get worse over time, but doctors are frequently unable to completely cure patients who have symptoms of cerebral palsy.

The movement problems associated with cerebral palsy are caused by damage to the part of the brain that controls muscle tone and allows the part of the body to stay in a certain position. This damage to the brain can occur while a baby is still in the womb, months after delivery or because of a birth injury suffered during the delivery process.

Early diagnosis

A cerebral palsy diagnosis is usually made within the child’s first months of life. Early signs that  child may have cerebral palsy include weakness or paralysis in one or more limbs, poor motor skills or the early development of right- or left-handedness (before age two), which may indicate problems in the other arm.

Because there are several different types of cerebral palsy, children who develop this condition can display a wide variety of symptoms as their bodies grow. Some of the most common cerebral palsy symptoms are stiff muscles, difficulty speaking, lack of muscle coordination, problems walking and difficulty with precise motions like writing.

Children with cerebral palsy may also show signs of mental retardation or seizures, but these symptoms of cerebral palsy are not always present.

Problems in the womb or during delivery

Although cerebral palsy cases can be caused by infection or problems in the womb, in some instances the condition may occur because of a birth injury that happens during the delivery process.

When the amount of oxygen reaching a baby’s brain is inadequate or when a doctor fails to properly monitor the child’s oxygen levels, this can cause brain damage and lead to cerebral palsy symptoms.

Types of Cerebral Palsy

Spastic cerebral palsy

Spastic cerebral palsy is the most common form of the disease, affecting approximately 70 to 80% of sufferers. Children with spastic cerebral palsy have high muscle tension, causing stiffness that can make movement difficult or awkward.

The different types of spastic cerebral palsy are described by the various parts of the body affected by these symptoms:

Spastic diplegia—symptoms appear in both legs
Spastic hemiplegia—symptoms on just one side of the body
Spastic quadriplegia—symptoms are present in the entire body

Athetoid cerebral palsy

Athetoid cerebral palsy (or dyskenetic cerebral palsy) affects about 10 to 20% of children who suffer from this condition. Patients with athetoid cerebral palsy experience slow, uncontrollable movements which can affect the hands, arms, feet or legs. When these cerebral palsy symptoms affect the face or tongue, they can cause difficulty speaking. This form of birth injury is also known as extrapyramidal cerebral palsy.

Ataxic cerebral palsy

Ataxic cerebral palsy causes difficulty with balance and depth perception. Patients who suffer from this type of cerebral palsy may have trouble walking, undertaking quick movements or employing fine motor skills, such as writing. They may also have trouble controlling their hands or arms when reaching for an object. Approximately 5 to 10% of patients with the disorder experience ataxic cerebral palsy symptoms.

Risk factors for Cerebral Palsy

A number of risk factors can be used to predict children who are at risk of developing cerebral palsy symptoms, including:

    •    Complications during pregnancy
    •    Complications during delivery or labor
    •    Breech birth
    •    Multiple births
    •    Birth defects
    •    Newborn seizures
    •    Low Apgar score

Signs appear before age 3 

The signs of cerebral palsy usually appear in a child with the condition before three years of age. Symptoms can vary from difficulty walking or staying balanced to problems with fine motor skills like writing or buttoning a shirt.

For children with a severe case of this condition, the signs of cerebral palsy may also include involuntary movements, such as drooling or hand movement. Some children may also suffer seizures or mental retardation.

Infant Brain Injury

Among all the birth injuries possible, infant brain injury is one of the most devastating. Parents expecting a normal, healthy child face the reality that their newborn suffered permanent disabling damage during a difficult delivery. Even more troubling is that many birth brain injuries could have been prevented.

Pediatric Brain Injury Symptoms

Many signs of brain injury at birth do not appear until later when a child is not behaving or developing as a normal baby would at the same age. The signs and symptoms of a child's brain injury depend largely on the type, cause and severity of the damage.

Some common signs and symptoms of infant brain injury include:

·         Infant's head fails to expand causing increased pressure on the brain

·         Sporadic, uncontrolled body movements

·         Trouble focusing

·         Excessive crying and fussiness

·         Baby won't sleep lying down

·         Refusal to eat

·         Developmental delays

·         Seizures

·         Difficulty breathing

·         Jaundice

·         Cerebral palsy

Causes of Infant Brain Injury

      Hypoxia, or decreased oxygen, is one of the most common causes of infant brain injury.

      This can occur for a variety of reasons, including an umbilical cord wrapped around a baby's neck or fetal distress from a prolonged labor.

      In some instances, a deformity of the skull causes bleeding in the brain, although this is rare.

Shoulder Dystocia

Shoulder dystocia occurs when a baby's shoulder becomes lodged behind a mother's pubic bone, preventing normal delivery of the shoulders and body. It can cause serious long-term effects if the shoulder is not dislodged and the baby delivered in a timely manner.

Signs of shoulder dystocia are usually only noted by the attending physician and delivery nurses. After the delivery of the head, the shoulders should slide through the birth canal with little effort. However, if a baby is turned to the side, or the shoulders are too wide, a shoulder can become trapped behind the pubic bone. This will suck the head back and cause the cheeks to puff out. The pressure on the baby's head and neck can cause asphyxiation or pinch the nerves in the upper arm. Shoulder dystocia symptoms include paralysis of the arm and shoulder (brachial plexus injury) and permanent brain injury.

Other injuries resulting from shoulder dystocia include:

·         Broken clavicle

·         Fractured arm

·         Contusions

·         Erb's palsy

·         Maternal injury, such as vaginal tearing and blood loss

 Prevention of Shoulder Dystocia

Shoulder dystocia is most prevalent in women with smaller pubic bones or with larger than average babies. Knowing this, some efforts can be taken to prevent the complication from occurring. For example, women with gestational diabetes tend to have larger than average babies. A doctor may plan a C-section or induce labor early to avoid the struggles of delivering a large baby vaginally.

Caring for a Child With a Shoulder Dystocia Injury

Some children will have no long-term effects of shoulder dystocia, while others will face a lifelong disability. It is difficult to pinpoint exactly what to expect as your child ages because of the range of disabilities and level of injuries that can occur.

Surgery, therapy, special schooling and lifetime disability care are all possible matters you need to consider as a parent to give the best chance to live as normal a life as possible.

Erb's Palsy

This type of birth injury stems from paralysis of the brachial plexus and is often confused with Klumpke’s palsy. The difference is that Klumpke’s palsy is an injury in the lower plexus. 

Trauma to the newborn

Trauma occurs during the delivery process when the infant’s shoulders are stuck behind the mother’s cervix. This may result in severe nerve damage of the newborn’s arm and shoulder. 

The damage is done when the obstetrician applies a lot of force to dislodge the baby’s shoulders.

A baby may have some or all of these Erb’s palsy symptoms:

• facial paralysis on the damaged side,
• limited ability to move,
• paralysis of arms and hands,
• loss of muscle control and
• the need for help in sitting upright.

Tools such as forceps or vacuums are often used to help deliver babies, but they may actually increase the risk of injury. Before delivery, a trained medical staff should recognize the risks involved and the factors that may lead to shoulder dystocia.

Erb's Palsy Symptoms

Erb’s palsy is a condition caused by damage during delivery to the brachial plexus (a bundle of nerves near the shoulder). Children who have suffered a brachial plexus injury may have a weak or paralyzed arm on one side of their body because signals from the brain cannot reach their intended target.

Apparent soon after birth

The symptoms of Erb’s palsy are usually apparent soon after birth. Some signs that a child may have the condition are a

• lack of movement in the arm or hand,
• decreased grip,
• absence of the Moro reflex (a startled reaction when its head falls after being released) and
• weak or absent arm position.

Children who have suffered a brachial plexus injury may experience different Erb’s palsy symptoms, depending on the type of arm paralysis they have experienced. In most cases, a brachial plexus injury only affects movement in the upper arm.

Related conditions

With Erb’s palsy, both the upper arm and the ability to rotate the lower arm are affected. Children with Klumpke’s palsy, a related condition, may experience

®    paralysis or weakness in the hands, as well as a

®    drooping eyelid on the opposite side.

Treatment

Most children with Erb’s palsy recover within six months. Range-of-motion exercises and massaging the affected arm may help in this process. However, if strength in the affected arm does not increase by this time, surgery may be required to correct the child’s Erb’s palsy symptoms.

Brachial Plexus Injury

The most severe forms of this birth injury call for immediate corrective surgery, and even then you are not assured of success.  Many brachial plexus injuries happen during birth and result from inadequate care on the part of the doctor and his assistants. 

The main signs and symptoms of brachial plexus are

 (1) a paralyzed arm,

 (2) no muscle control in the arm, wrist or hand and

(3) numbness due to nerve damage

Four degrees of damage

Damage to the brachial nerve network may result in four different degrees of injuries which range from severe to recoverable. They are:

Avulsion—when the nerve is completely torn from the spine. This form has the least chance for successful treatment.

Rupture—when the nerve is torn, but it is still attached to the spine

Neuroma—when scar tissue has grown around the injury, which prevents the nerve from sending signals to the muscles

Neuropraxia—when the nerve is stretched but not torn or ripped.       This represents the best chance for a successful treatment. 

Fetal Distress

Fetal distress occurs when a baby’s blood supply is reduced (ischemia) or when the amount of oxygen in the blood decreases (hypoxia) during delivery. This places the mother at risk, and her child may be in danger of a debilitating birth injury, such as brain damage or even death.

Conditions for fetal distress

®    Mothers with high blood pressure or diabetes, or

®    who have experienced an infection during pregnancy

®    placental abruption (the separation of the placenta from the uterine wall) or

®    a uterine rupture (the wall of the uterus is partially or fully breached

Management

·         Signs of fetal distress require monitoring with a view to induction of labour.

·         Continuing fetal distress during labour may indicate need for Caesarean section.

·         Term or post-mature fetuses may produce meconium stained liquor. This can be detrimental to the fetal lungs by producing a chemical pneumonitis if inhaled.

·         Amnio-infusion has been shown to be beneficial in this situation, with a reduced risk of Caesarean section:

o    This is an initial infusion of a 250-500 ml bolus of warmed normal saline, through a double lumen intrauterine pressure catheter. (Uterine pressure and fetal heart rate - via scalp electrode - are monitored constantly.) It is thought to dilute meconium and reduce the risk of meconium aspiration. It is not, however recommended by NICE.

o    The potential adverse effects include umbilical cord prolapse, uterine scar rupture andamniotic fluid embolism.

o    It has also been used in pregnancies complicated by oligohydramnios, with similar positive outcomes.

Brain Damage

About one in every 1,000 deliveries in the United States results in a baby suffering brain injury. A doctor’s negligence during delivery often leads to a complication that causes the baby to have a damaged brain.

Common causes of brain damage during childbirth

Brain damage can result from a childbirth complication or medical malpractice during the delivery process. Common causes of brain damage during childbirth:

®    bleeding inside the brain due to improper delivery,

®    infection during pregnancy undetected by the doctor and

®    lack of oxygen due to improper delivery.

®    Neonatal hypoglycemia.

Symptoms of brain-damaged babies

• unusual positioning,
• slow development,
• vision and hearing problems.

Other Birth Injuries

In addition to cerebral palsy and Erb’s palsy (or brachial palsy), a number of health conditions can result from a birth injury during delivery. Some of these injuries may occur because the doctor delivering the baby fails to properly monitor its condition or uses improper methods to deliver the baby from the womb.

Shoulder dystocia                                              

Shoulder dystocia occurs when the baby’s shoulder becomes lodged during the delivery process. The risk of this condition is especially high in larger babies (weighing more than 8 pounds, 13 ounces), but many cases also occur in smaller babies. Deliveries done with forceps or a vacuum extractor may increase the risk of this condition.

Babies who experience shoulder dystocia are at risk for a variety of birth injuries, including Erb’s palsy, other types of brachial plexus or nerve injuries, a broken clavicle, Klumpke’s palsy, diaphragm paralysis or other respiratory problems.

Fractures and broken bones

When a baby is delivered using too much force or in an improper manner, fractures and broken bones may result. Babies who are delivered by breech birth (buttocks or feet first) or who experience shoulder dystocia may suffer a broken clavicle. Fracture to the long bones may also occur when the leg or arm is rotated during a breech birth. 

Asphyxia

Asphyxia occurs when the baby’s body does not receive enough oxygen. This can be caused by problems with the umbilical cord or placenta. If not treated quickly, asphyxia can lead to serious birth injuries, including cerebral palsy, brain damage or death.

Other types of birth injuries, including

¨      swelling of the scalp tissue,

¨      bleeding underneath the cranial bones or

¨      bleeding from broken blood vessels in the eye, may also occur.

Cephalohematoma

A cephalohematoma is a collection of blood underneath the scalp. It is characterized by soft swelling that feels squishy to the touch, like a small water sac resting on top of the head. Babies with a cephalohematoma will have a typical oval or round skull with a swelling mass protruding from the point where the blood collected.

Causes

Cephalohematomas occur when the tiny veins that supply nutrients to the tissue surrounding the bones burst. It is a complication of childbirth that results from the head being forced through the birth canal. As the head is pulled or pushed through the canal, the cervix grips the heads, creating pressure on the veins. The process is painless, but it does leave the baby looking slightly deformed until the cephalohematoma heals.

Cephalohematomas are most common in deliveries assisted by forceps or vacuums. In part, this is related to pulling the larger head through the birth canal, which is why these devices are necessary. Many times, however, cephalohematomas are a result of a physician using the assisted laboring devices incorrectly, or using them too aggressively and failing to prevent the pressure on the veins.

Caring for a Cephalohematoma

Babies born with a cephalohematoma generally have no long-term complications. The trapped blood will eventually break down and the swelling subside.

Cephalohematoma vs. Caput Succedaneum

Cephalohematomas are often confused with caput succedaneum because they have the similar characteristic of swelling of the scalp. The difference is that caput succedaneum is a natural result of the head moving through the birth canal. The pressure of the vagina wall causes a large swelling mass at the part of the head that was presented first during delivery. The swelling usually lasts only a couple of days, at most. Cephalohematomas are more than swelling because they are actually caused by veins that burst during the birthing process. The swelling site is smaller, more defined, and feels like a sac of water under the skin. This swelling can last a few months while the trapped blood is broken down and absorbed back into the body.

Prevention of birth injuries

Birth injuries is most prevalent in women with smaller pubic bones or with larger than average babies. Knowing this, some efforts can be taken to prevent the complication from occurring. For example, women with gestational diabetes tend to have larger than average babies. A doctor may plan a C-section or induce labor early to avoid the struggles of delivering a large baby vaginally.

Nursing management

1.         Activity intolerance related to birth injury

·                     Assess babies condition

·                     Advice the family members how to handle the baby

·                     Provide support to the affected part

·                     Avoid unnecessary handling 

2.                                       Fear and anxiety of parents related to babies condition

·         Provide proper explanation about babies condition

·         Give information about babies progress frequently

·         Provide psychological reassurance to the parents

·         Clarify the parents doubts .

3.                                       Potential for injury related to involuntary movement of muscle

®    Provide restrains

®    Continues monitoring should be done

®    Loose the tight cloths during seizure attack

®    Remove safe environment

®    Provide adequate ventilation 

4.                                                   Potential for complication related to birth injuries

®                         Assess the babies condition

®                         Avoid unnecessary handling of baby

®                         Educate the mother how to handle the baby while feeding 

®                         Advice the mother to monitor the changes and inform to the pediatrician

CONGENITAL ANOMALY

A congenital anomaly (congenital abnormality, congenital malformation, birth defect) is a condition which is present at the time of birth which varies from the standard presentation.

 Causes of congenital anamoly

Genetic causes of congenital anomalies include inheritance of abnormal genes from the parents, as well as new mutations in one of the germ cells that gave rise to the fetus.

Environmental causes of congenital anomalies are referred to as teratogenic. These are generally problems with the mother's environment. Teratogens can include dietary deficiencies, toxins, or infections. For example, dietary deficiency of maternal folic acid is associated with spina bifida. Ingestion of harmful substances by the mother (e.g., alcohol, mercury, or prescription drugs such as phenytoin) can cause recognizable combinations of birth defects.

Several infections which a mother can contract during pregnancy can also be teratogenic. These are referred to as the TORCH infections.

Teratogens

The greatest risk of a malformation due to environmental exposure to a teratogen (terato = monster, gen = producing) between the third and eighth week of gestation. Before this time, any damage to the embryo is likely to result in fatality, and the baby will not be born. After eight weeks, the fetus and its organs are more developed and less sensitive to teratogenicincidents.

The type of congenital anomaly is also related to the time of exposure to a teratogen. For instance, the heart is susceptible from three to eight weeks, but the ear is susceptible from a slightly later time to about twelve weeks.

Infection in the mother early in the third week may cause fetal cardiac damage. An infection in the eleventh week is less likely to damage the heart, but the baby may be born deaf. A common cause of congenital deafness of children in particular is a measles infection in the mother.

Diagnostic investigation

Prenatal diagnosis uses various noninvasive and invasive techniques to determine the health of, the condition of, or any abnormality in an unborn fetus. These techniques are outlined below.

 

Noninvasive techniques

®    Fetal visualization

o   Ultrasound

o   Fetal echocardiography

o   Magnetic resonance imaging (MRI)

o   Radiography

®    Screening for neural tube defects (NTDs) - Measuring maternal serum alpha-fetoprotein (MSAFP)

®    Screening for fetal Down syndrome

o   Measuring MSAFP

o   Measuring maternal unconjugated estriol

o   Measuring maternal serum beta-human chorionic gonadotropin (HCG)

®    Separation of fetal cells from the mother's blood

®    Assessment of fetal-specific DNA methylation ratio

Invasive techniques

®    Fetal visualization

o   Embryoscopy

o   Fetoscopy

®    Fetal tissue sampling

o   Amniocentesis

o   Chorionic villus sampling (CVS)

o   Percutaneous umbilical blood sampling (PUBS)

o   Percutaneous skin biopsy

o   Other organ biopsies, including muscle and liver biopsy

®    Preimplantation biopsy of blastocysts obtained by in vitro fertilization

®    Cytogenetic investigations

o   Detection of chromosomal aberrations

o   Fluorescent in situ hybridization

®    Molecular genetic techniques

o   Linkage analysis using microsatellite markers

o   Restriction fragment length polymorphisms (RFLPs)

o   Single nucleotide polymorphisms (SNPs)

§  DNA chip

§  Dynamic allele-specific hybridization (DASH)

Types 

¨      A limb anomaly is called a dysmelia. These include all forms of limbs anomalies, such as amelia, ectrodactyly, phocomelia,polymelia, polydactyly, syndactyly, polysyndactyly, oligodactyly, brachydactyly, achondroplasia, congenital aplasia orhypoplasia, amniotic band syndrome, and cleidocranial dysostosis.

¨      Congenital anomalies of the heart include patent ductus arteriosus, atrial septal defect, ventricular septal defect, and tetralogy of fallot. 

¨       Congenital anomalies of the nervous system include neural tube defects such as spina bifida, meningocele, meningomyelocele, encephalocele and anencephaly. Other congenital anomalies of the nervous system include the Arnold-Chiari malformation, the    Dandy Walker malformation,  hydrocephalus, microencephaly, megencephaly, lissencephaly, polymicrogyria,holoprosencephaly, and agenesis of the corpus callosum.

¨      Congenital anomalies of the gastrointestinal system include numerous forms of stenosis and atresia, and imperforate.

CONGENITAL ANAMOLIES OF THE LIMBS

Dysmelia

Dysmelia is a congenital disorder referring to the limbs. 

Types 

Dysmelia can refer to

§  missing (aplasia) limbs: amelia, oligodactyly, congenital amputation

§  malformation of limbs: ectrodactyly, phocomelia, syndactyly, brachydactyly, clubfoot

§  too many limbs: polymelia, polydactyly, polysyndactyly

Amelia is the birth defect of lacking one or more limbs. It can also result in a shrunken or deformed limb. For example, a child might be born without an elbow or forearm. The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. A related term is meromelia, which is the partial absence of a limb or limbs. 

Ectrodactyly, sometimes referred to as the “Lobster-Claw Syndrome” involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand/split foot malformation (SHFM). The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar abnormalities of the feet.

Phocomelia

Phocomelia is an extremely rare congenital disorder involving the limbs (dysmelia). The occurrence of this malformation in an individual results in various abnormalities to the face, limbs, ears, nose, vessels and many other underdevelopments. The best fix for phocomelia is prevention of a pregnant woman taking thalidomide during pregnancy and prosthesis. Although operations can be done to fix the abnormality it is difficult due to the lack of nerves, bones, and other related structures.

Polymelia

Polymelia is a birth defect involving limbs (a type of dysmelia), in which the affected individual has more than the usual number of limbs. In humans and most land-dwelling animals, this means having five or more limbs. The extra limb is most commonly shrunken and/or deformed.

Polydactyly

Polydactyly or polydactylism also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes.

CONGENITAL HEART DEFECT (CHD)

A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels which is present at birth. Many types of heart defects exist, most of which either obstruct blood flow in the heart or vessels near it, or cause blood to flow through the heart in an abnormal pattern.

Signs and symptoms

Signs and symptoms are related to the type and severity of the heart defect.

¨      shortness of breath, 

¨      cyanosis,syncope, 

¨      heart murmur,

¨      under-developing of limbs and muscles,

¨      poor feeding or growth, or

¨      respiratory infections.

¨      heart murmur

Associated symptoms

 VACTERL association

Congenital heart defects are associated with an increased incidence of some other symptoms, together being called the VACTERL association:

§  V - Vertebral anomalies

§  A - Anal atresia

§  C - Cardiovascular anomalies

§  T - Tracheoesophageal fistula

§  E - Esophageal atresia

§  R - Renal (Kidney) and/or radial anomalies

§  L - Limb defects

Types

Ø  Ventricular septal defect (VSD),

Ø  atrial septal defects, and

Ø  tetralogy of Fallot are the most common congenital heart defects seen in the VACTERL association.

Ø  Less common defects in the association are truncus arteriosus, and transposition of the great arteries.

 

Causes

The cause of congenital heart disease may be either genetic or environmental, but is usually a combination of both.

Genetics

Most of the known causes of congenital heart disease are sporadic genetic changes,

^Ø    either focal mutations or deletion or addition of segments of DNA.

Ø  Large chromosomal abnormalities such as trisomies 21, 13, and 18 

Ø  with trisomy 21

Environmental

ü  Known antenatal environmental factors include maternal infections (Rubella), 

ü  drugs (alcohol, hydantoin, lithium and thalidomide) and

ü  maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).

Classification

A number of differing classification systems exist for congenital heart defects. In 2000 the International Congenital Heart Surgery Nomenclature was developed to provide a generic classification system.

Hypoplasia

Hypoplasia can affect the heart, typically resulting in the underdevelopment of the right ventricle or the left ventricle. This results in only one side of the heart capable of pumping blood to the body and lungs effectively. Hypoplasia of the heart is rare but is the most serious form of CHD. It is called hypoplastic left heart syndrome when it affects the left side of the heart and hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions, the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart surgery can be performed, since without these pathways blood cannot circulate to the body (or lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a cyanotic heart defect.

Obstruction defects

Obstruction defects occur when heart valves, arteries, or veins are abnormally narrow or blocked. Common defects include pulmonic stenosis, aortic stenosis, and coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or hypertension.

Septal defects

The septum is a wall of tissue which separates the left heart from the right heart. Defects in the interatrial septum or the interventricular septum allow blood to flow from the left side of the heart to the right, reducing the heart's efficiency. Ventricular septal defects are collectively the most common type of CHD although approximately 30% of adults have a type of atrial septal defect called probe patent foramen ovale.

Cyanotic defects

Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration of the skin due to a lack of oxygen in the body. Such defects include persistent truncus arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot,transposition of the great vessels, and tricuspid atresia.

Defects

§  Aortic stenosis

§  Atrial septal defect (ASD)

§  Atrioventricular septal defect (AVSD)

§  Bicuspid aortic valve

§  Dextrocardia

§  Double inlet left ventricle (DILV)

§  Double outlet right ventricle (DORV)

§  Ebstein's anomaly

§  Hypoplastic left heart syndrome (HLHS)

§  Hypoplastic right heart syndrome (HRHS)

§  Mitral stenosis

§  Pulmonary atresia

§  Pulmonary stenosis

§  Transposition of the great vessels

§  dextro-Transposition of the great arteries (d-TGA)

§  levo-Transposition of the great arteries (l-TGA)

§  Tricuspid atresia

§  Persistent truncus arteriosus

§  Ventricular septal defect (VSD)

Some conditions affect the great vessels or other vessels in close proximity to the heart, but not the heart itself, but are often classified as congenital heart defects.

§  Coarctation of the aorta (CoA)

§  Interrupted aortic arch (IAA)

§  Patent ductus arteriosus (PDA)

§  Scimitar syndrome (SS)

§  Partial anomalous pulmonary venous connection (PAPVC)

§  Total anomalous pulmonary venous connection (TAPVC)

Treatment

Sometimes CHD improves without treatment. Other defects are so small that they do not require any treatment. Most of the time CHD is serious and requires surgery and/or medications. Medications include diuretics, which aid the baby in eliminating water, salts, and digoxin for strengthening the contraction of the heart. This slows the heartbeat and removes some fluid from tissues. Some defects require surgical procedures to restore circulation back to normal and in some cases, multiple surgeries are needed. Interventional cardiology now offers patients minimally invasive alternatives to surgery. Device closures can now be performed with a standard transcatheter procedure using a closure device mounted on a balloon catheter.

Most patients require life-long specialized cardiac care, first with a pediatic cardiologist and later with and adult congenital cardiologist. There are more than 1.8 million adults living with congenital heart defects.

CONGENITAL ANOMALIES OF THE NERVOUS SYSTEM

Many congenital anomalies of the nervous system (birth defects), such as hydrocephalus, Chiari malformation, spina bifida, and encephalocele are treated primarily with surgery. At Comer Children's Hospital at the University of Chicago, we have established an exceptional program to treat these diseases. Our dedicated staff includes a multidisciplinary team of pediatric neurosurgeons, pediatric neurologists, pediatric orthopaedists, urologists, rehabilitation specialists, and physicians in the human genetics program. Research grants fund this program so that we can bring the latest discoveries to children with these conditions.

Hydrocephalus

Hydrocephalus , also known as "water on the brain," is a medical condition in which there is an abnormal accumulation of cerebrospinal fluid (CSF) in the ventricles, or cavities, of the brain. This may cause increased intracranial pressure inside the skull and progressive enlargement of the head, convulsion, tunnel vision, and mental disability. Hydrocephalus can also cause death.

Signs and symptoms

Symptoms of increased intracranial pressure may  include headaches, vomiting , nausea, papilledema,  sleepiness or coma. Elevated intracranial pressure may result in uncal and/or cerebellar tonsill herniation, with resulting life threatening brain stem compression.

Hakim's triad of gait instability, urinary incontinence and dementia is a relatively typical manifestation of the distinct entity normal pressure hydrocephalus (NPH). In infants with hydrocephalus, CSF builds up in the central nervous system, causing the fontanelle (soft spot) to bulge and the head to be larger than expected. Early symptoms may also include:

§  Eyes that appear to gaze downward (Sundowning)

§  Irritability

§  Seizures

§  Separated sutures

§  Sleepiness

§  Vomiting

Symptoms that may occur in older children can include:

§  Brief, shrill, high-pitched cry

§  Changes in personality, memory, or the ability to reason or think

§  Changes in facial appearance and eye spacing

§  Crossed eyes or uncontrolled eye movements

§  Difficulty feeding

§  Excessive sleepiness

§  Headache

§  Irritability, poor temper control

§  Loss of bladder control (urinary incontinence)

§  Loss of coordination and trouble walking

§  Muscle spasticity (spasm)

§  Slow growth (child 0–5 years)

§  Slow or restricted movement

§  Vomiting 

 Pathology

Hydrocephalus is usually due to blockage of cerebrospinal fluid (CSF) outflow in the ventricles or in the subarachnoid space over the brain. In a person without hydrocephalus, CSF continuously circulates through the brain, its ventricles and the spinal cord and is continuously drained away into the circulatory system. Alternatively, the condition may result from an overproduction of the CSF fluid, from a congenital malformation blocking normal drainage of the fluid, or from complications of head injuries or infections.

Compression of the brain by the accumulating fluid eventually may cause convulsions and mental retardation. These signs occur sooner in adults, whose skulls no longer are able to expand to accommodate the increasing fluid volume within. Fetuses, infants, and young children with hydrocephalus typically have an abnormally large head, excluding the face, because the pressure of the fluid causes the individual skull bones — which have yet to fuse — to bulge outward at their juncture points. Another medical sign, in infants, is a characteristic fixed downward gaze with whites of the eyes showing above the iris, as though the infant were trying to examine its own lower eyelids

Spontaneous intracerebral and intraventricular hemorrhage with hydrocephalus shown on CT scan

The elevated intracranial pressure may cause compression of the brain, leading to brain damage and other complications. Conditions among affected individuals vary widely.

If the foramina (pl.) of the fourth ventricle or the cerebral aqueduct are blocked, cereobrospinal fluid (CSF) can accumulate within the ventricles. This condition is called internal hydrocephalus and it results in increased CSF pressure. The production of CSF continues, even when the passages that normally allow it to exit the brain are blocked. Consequently, fluid builds inside the brain causing pressure that compresses the nervous tissue and dilates the ventricles. Compression of the nervous tissue usually results inirreversible brain damage. If the skull bones are not completely ossified when the hydrocephalus occurs, the pressure may also severely enlarge the head. The cerebral aqueduct may be blocked at the time of birth or may become blocked later in life because of a tumor growing in the brainstem.

Internal hydrocephalus can be successfully treated by placing a drainage tube (shunt) between the brain ventricles and abdominal cavity to eliminate the high internal pressures. There is some risk of infection being introduced into the brain through these shunts, however, and the shunts must be replaced as the person grows. A subarachnoid hemorrhage may block the return of CSF to the circulation. If CSF accumulates in the subarachnoid space, the condition is called external hydrocephalus. In this condition, pressure is applied to the brain externally, compressing neural tissues and causing brain damage. Thus resulting in further damage of the brain tissue and leading to necrotization.

Classification

Hydrocephalus can be caused by impaired cerebrospinal fluid (CSF) flow, reabsorption, or excessive CSF production.

§  The most common cause of hydrocephalus is CSF flow obstruction, hindering the free passage of cerebrospinal fluid through the ventricular system and subarachnoid space (e.g., stenosis of the cerebral aqueduct or obstruction of the interventricular foramina -foramina of Monro secondary to tumors, hemorrhages, infections or congenital malformations).

§  Hydrocephalus can also be caused by overproduction of cerebrospinal fluid (relative obstruction) (e.g., papilloma of choroid plexus).

Based on its underlying mechanisms, hydrocephalus can be classified into communicating and non-communicating (obstructive). Both forms can be either congenital or acquired.

Communicating

Communicating hydrocephalus, also known as non-obstructive hydrocephalus, is caused by impaired cerebrospinal fluid resorption in the absence of any CSF-flow obstruction between the ventricles and subarachnoid space. It has been theorized that this is due to functional impairment of the arachnoid granulations, which are located along the superior sagittal sinus and is the site of cerebrospinal fluid resorption back into the venous system. Various neurologic conditions may result in communicating hydrocephalus, including subarachnoid/intraventricular hemorrhage, meningitis and congenital absence of arachnoidal granulations (Pacchioni's granulations). Scarring and fibrosis of the subarachnoid space following infectious, inflammatory, or hemorrhagic events can also prevent resorption of CSF, causing diffuse ventricular dilatation.

§  Normal pressure hydrocephalus (NPH) is a particular form of communicating hydrocephalus, characterized by enlarged cerebral ventricles, with only intermittently elevated cerebrospinal fluid pressure. The diagnosis of NPH can be established only with the help of continuous intraventricular pressure recordings (over 24 hours or even longer), since more often than not instant measurements yield normal pressure values. Dynamic compliance studies may be also helpful. Altered compliance (elasticity) of the ventricular walls, as well as increased viscosity of the cerebrospinal fluid, may play a role in the pathogenesis of normal pressure hydrocephalus.

§  Hydrocephalus ex vacuo also refers to an enlargement of cerebral ventricles and subarachnoid spaces, and is usually due to brain atrophy (as it occurs in dementias), post-traumatic brain injuries and even in some psychiatric disorders, such as schizophrenia. As opposed to hydrocephalus, this is a compensatory enlargement of the CSF-spaces in response to brain parenchyma loss - it is not the result of increased CSF pressure.

Non-communicating

Non-communicating hydrocephalus, or obstructive hydrocephalus, is caused by a CSF-flow obstruction ultimately preventing CSF from flowing into the subarachnoid space (either due to external compression or intraventricular mass lesions).

§  Foramen of Monro obstruction may lead to dilation of one or, if large enough (e.g., in Colloid cyst), both lateral ventricles.

§  The aqueduct of Sylvius, normally narrow to begin with, may be obstructed by a number of genetically or acquired lesions (e.g., atresia, ependymitis, hemorrhage, tumor) and lead to dilation of both lateral ventricles as well as the third ventricle.

§  Fourth ventricle obstruction will lead to dilatation of the aqueduct as well as the lateral and third ventricles (e.g., Chiari malformation).

§  The foramina of Luschka and foramen of Magendie may be obstructed due to congenital failure of opening (e.g., Dandy-Walker malformation).

Congenital

The cranial bones fuse by the end of the third year of life. For head enlargement to occur, hydrocephalus must occur before then. The causes are usually genetic but can also be acquired and usually occur within the first few months of life, which include 1) intraventricular matrix hemorrhages in premature infants, 2) infections, 3) type II Arnold-Chiari malformation, 4) aqueduct atresia and stenosis, and 5) Dandy-Walker malformation.

Acquired

This condition is acquired as a consequence of CNS infections, meningitis, brain tumors, head trauma, intracranial hemorrhage(subarachnoid or intraparenchymal) and is usually extremely painful.

Effects

Because hydrocephalus can injure the brain

·         thought and behavior may be adversely affected.

·         Learning disabilities including short-term memory

·         motion and visual problems,

·         problems with coordination, or may be clumsy.

·         epilepsy.

Treatment

Hydrocephalus treatment is surgical, generally creating various types of cerebral shunts. It involves the placement of a ventricular catheter(a tube made of silastic), into the cerebral ventricles to bypass the flow obstruction/malfunctioning arachnoidal granulations and drain the excess fluid into other body cavities, from where it can be resorbed.

Spina Bifida

Spina bifida (Latin: "split spine") is a developmental congenital disorder caused by the incomplete closing of the embryonic neural tube. Some vertebrae overlying the spinal cord are not fully formed and remain unfused and open. If the opening is large enough, this allows a portion of the spinal cord to protrude through the opening in the bones. There may or may not be a fluid-filled sac surrounding the spinal cord. Other neural tube defects include anencephaly, a condition in which the portion of the neural tube which will become the cerebrum does not close, and encephalocele, which results when other parts of the brain remain unfused.

Spina bifida malformations fall into four categories: spina bifida occulta, spina bifida cystica (myelomeningocele), meningocele and lipomeningocele. The most common location of the malformations is the lumbar and sacral areas. Myelomeningocele is the most significant form and it is this that leads to disability in most affected individuals. The terms spina bifida and myelomeningocele are usually used interchangeably.

Spina bifida can be surgically closed after birth, but this does not restore normal function to the affected part of the spinal cord. Intrauterine surgery for spina bifida has also been performed and the safety and efficacy of this procedure is currently being investigated. The incidence of spina bifida can be decreased by up to 70% when daily folic acid  supplements are taken prior to conception.

Classification

Spina bifida occulta

In occulta, the outer part of some of the vertebrae are not completely closed. The split in the vertebrae is so small that the spinal cord does not protrude. The skin at the site of them lesion may be normal, or it may have some hair growing from it; there may be a dimple in the skin, or a birthmark.

Spina bifida cystica

In spina bifida cystica, a cyst protrudes through the defect in the vertebral arch. These conditions can be diagnosed in utero on the basis of elevated levels of alpha-fetoprotein, after amniocentesis, and by ultrasound imaging. Spina bifida cystica may result in hydrocephalus and neurological deficits.

Meningocele

The least common form of spina bifida is a posterior meningocele (or meningeal cyst).

In a posterior meningocele, the vertebrae develop normally, however the meninges are forced into the gaps between the vertebrae. As the nervous system remains undamaged, individuals with meningocele are unlikely to suffer long-term health problems, although there are reports of tethered cord. Causes of meningocele include teratoma and other tumors of the sacrococcyx and of the presacral space, and Currarino syndrome, Bony defect with outpouching of meninges.

A meningocele may also form through dehiscences in the base of skull. These may be classified by their localisation to occipital, frontoethmoidal, or nasal. Endonasal meningoceles lie at the roof of the nasal cavity and may be mistaken for a nasal polyp. They are treated surgically.

 

 

 

Myelomeningocele

In this, a serious and common form, the unfused portion of the spinal column allows the spinal cord to protrude through an opening. The meningeal membranes that cover the spinal cord form a sac enclosing the spinal elements.

The protruded portion of the spinal cord and the nerves which originate at that level of the cord are damaged or not properly developed. As a result, there is usually some degree of paralysis and loss of sensation below the level of the spinal cord defect. Thus, the higher the level of the defect the more severe the associated nerve dysfunction and resultant paralysis.

People may have ambulatory problems, loss of sensation, deformities of the hips, knees or feet and loss of muscle tone. Depending on the location of the lesion, intense pain may occur originating in the lower back, and continuing down the leg to the back of the knee.

The myelomeningocele (or perhaps the scarring due to surgery) tethers the spinal cord. In some individuals this causes significant traction on the spinal cord and can lead to a worsening of the paralysis, scoliosis, back pain, or worsening bowel and/or bladder function.

Signs and symptoms

Children with spina bifida often have hydrocephalus, which consists of excessive accumulation of cerebrospinal fluid in the ventricles of the brain. Incontinence is also common.

According to the Spina Bifida Association of America (SBAA), over 73 percent of people with spina bifida develop an allergy to latex, ranging from mild to life-threatening. The common use of latex in medical facilities makes this a particularly serious concern. The most common approach to avoid developing an allergy is to avoid contact with latex-containing products such as examination gloves, condoms,catheters, and many of the products used by dentists.

Pathophysiology

Spina bifida is caused by the failure of the neural tube to close during the first month of embryonic development (often before the mother knows she is pregnant).

Normally the closure of the neural tube occurs around the 23rd (rostral closure) and 27th (caudal closure) day after fertilization.However, if something interferes and the tube fails to close properly, a neural tube defect will occur. Medications such as some anticonvulsants, diabetes, having a relative with spina bifida, obesity, and an increased body temperature from fever or external sources such as hot tubs and electric blankets may increase the chances of conception of a baby with a spina bifida.

Research has shown that lack of folic acid (folate) is a contributing factor in the pathogenesis of neural tube defects, including spina bifida. Supplementation of the mother's diet with folate can reduce the incidence of neural tube defects by about 70 percent, and can also decrease the severity of these defects when they occur. 

Prevention

There is no single cause of spina bifida nor any known way to prevent it entirely. However, dietary supplementation with folic acid has been shown to be helpful in preventing spina bifida. Sources of folic acid include whole grains, fortified breakfast cereals, driedbeans, leaf vegetables and fruits.

The U.S. Food and Drug Administration, Public Health Agency of Canada and UK recommended amount of folic acid for women of childbearing age and women planning to become pregnant is at least 0.4 mg/day of folic acid from at least three months before conception, and continued for the first 12 weeks of pregnancy.Women who have already had a baby with spina bifida or other type of neural tube defect, or are taking anticonvulsant medication should take a higher dose of 4–5 mg/day.

Pregnancy screening

Neural tube defects can usually be detected during pregnancy by testing the mother's blood (AFP screening) or a detailed fetal ultrasound.

Increased levels of maternal serum alpha-fetoprotein (MSAFP) should be followed up by two tests - an ultrasound of the fetal spine and amniocentesis of the mother's amniotic fluid (to test for alpha-fetoprotein and acetylcholinesterase).

Spina bifida may be associated with other malformations as in dysmorphic syndromes, often resulting in spontaneous miscarriage.

Treatment

There is no known cure for nerve damage due to spina bifida. To prevent further damage of the nervous tissue and to prevent infection, pediatric neurosurgeons operate to close the opening on the back. During the operation for spina bifida cystica, the spinal cord and its nerve roots are put back inside the spine and covered with meninges. In addition, a shunt may be surgically installed to provide a continuous drain for the cerebrospinal fluid produced in the brain, as happens with hydrocephalus. Shunts most commonly drain into the abdomen. However, if spina bifida is detected during pregnancy, then open fetal surgery can be performed.

Most individuals with myelomeningocele will need periodic evaluations by specialists including orthopedists to check on their bones and muscles, neurosurgeons to evaluate the brain and spinal cord and urologists for the kidneys and bladder.

Chiari Malformation

Arnold–Chiari malformation, or often simply Chiari malformation, is a malformation of the brain. It consists of a downward displacement of the cerebellar tonsils through the foramen magnum (the opening at the base of the skull), sometimes causing non-communicating  hydrocephalus as a result of obstruction of cerebrospinal fluid (CSF) outflow. The cerebrospinal fluid outflow is caused by phase difference in outflow and influx of blood in the vasculature of the brain. It can cause headaches, fatigue, muscle weakness in the head and face, difficulty swallowing, dizziness, nausea, impaired coordination, and, in severe cases, paralysis.

Classification

The Austrian pathologist Hans Chiari in the late 19th century described seemingly related anomalies of the hindbrain, the so called Chiari malformations I, II and III. Later, other investigators added a fourth (Chiari IV) malformation. The scale of severity is rated I - IV, with IV being the most severe. Types III and IV are very rare.

Type	Presentation	Other notes
I	A congenital malformation. Is generally asymptomatic during childhood, but often manifests with headaches and cerebellar symptoms. Herniation of cerebellar tonsils.	The most common form.
Syndrome of occipitoatlantoaxial hypermobility	An acquired Chiari I Malformation in patients with hereditary disorders of connective tissue. Patients who exhibit extreme joint hypermobility and connective tissue weakness as a result of Ehlers-Danlos syndrome or Marfan Syndrome are susceptible to instabilities of the craniocervical junction and thus acquiring a Chiari Malformation. This type is difficult to diagnose and treat.
II	Usually accompanied by a lumbar myelomeningocele leading to partial or complete paralysis below the spinal defect. As opposed to the less pronounced tonsillar herniation seen with Chiari I, there is a larger cerebellar vermian displacement. Low lying torcular herophili, tectal beaking, and hydrocephalus with consequent clival hypoplasia are classic anatomic associations.The position of the torcular herophili is important for distinction from Dandy-Walker syndrome in which it is classically upturned. This is important because the hypoplastic cerebellum of Dandy-Walker may be difficult to distinguish from a Chiari malformation that has herniated or is ectopic on imaging. Colpocephaly may be seen due to the associated neural tube defect.
III	Causes severe neurological defects. It is associated with an occipitalencephalocele.
IV	Characterized by a lack of cerebellar development.

Brain Sagging and Pseudo-Chiari Malformation.

The displacement of the cerebellar tonsils into the spinal canal may be mistaken for a Chiari I malformation, and some patients with spontaneous intracranial hypotension have undergone decompressive posterior fossa surgery.

Symptoms

§  Headaches aggravated by Valsalva maneuvers, such as yawning, laughing, crying, coughing, sneezing or straining

§  Tinnitus (ringing in the ears)

§  Dizziness and vertigo

§  Nausea

§  Nystagmus (irregular eye movements)

§  Facial pain

§  Muscle weakness

§  Impaired gag reflex

§  Restless Leg Syndrome

§  Sleep Apnea

§  Dysphagia (difficulty swallowing)

§  Impaired coordination

§  Dysautonomia: tachycardia (rapid heart), syncope (fainting), polydipsia (extreme thirst), chronic fatigue

The blockage of Cerebro-Spinal Fluid (CSF) flow may also cause a syrinx to form, eventually leading tosyringomyelia. Central cord symptoms such as hand weakness, dissociated sensory loss, and, in severe cases, paralysis may occur.^[21]

Diagnosis

Diagnosis is made through a combination of patient history, neurological examination, and Magnetic Resonance Imaging (MRI).

Other imaging techniques involve the use of 3-D CT imaging of the brain and cine imaging (a movie of the brain) can be used to determine if the brainstem is being compressed by the pulsating arteries that surround it.

Treatment

Once symptomatic onset occurs, a common treatment is decompression surgery, in which a neurosurgeon usually removes the lamina of the first and sometimes the second or even third cervical vertebrae and part of the occipital bone of the skull to relieve pressure. The flow of spinal fluid may be accompanied by a shunt. Since this surgery usually involves the opening of the dura mater and the expansion of the space beneath, a dural graft is usually applied to cover the expanded posterior fossa.

A small number of neurological surgeons believe that detethering the spinal cord as an alternate approach relieves the compression of the brain against the skull opening (foramen magnum), obviating the need for decompression surgery and associated trauma.

Dandy-Walker malformation

The original definition of the Dandy-Walker malformation in 1914 was formulated by Blackfan and Dandy. They described this as a constellation of alterations of the posterior fossa consisting of fourth ventricular cystic dilatation, cerebellar vermian hypoplasia, separation of the cerebellar hemispheres, dilatation of the aqueduct and absence of the Foramen.

The three main types that are included within this term are:

1.     Dandy-Walker malformation: Large posterior fossa, complete or partially agenesis of the cerebellar vermis, and elavation of the tentorium cerebelli.

2.     Dandy-Walker variant: hypoplastic cerebellar vermis with or without a large posterior fossa.

3.     Mega cisterna magna: Large cisterna magna with integrity of the cerebellar vermis and fourth ventricle.

Etiology: 

®    Imbalance between production of fluid between the third, the lateral ventricle and the fourth ventricle.

®    The excessive production of fluid in the ventricles results in a dilation and herniation of the rhombencephalon. This results in secondary hypoplasia of the cerebellar vermis due to compressive effects and the fourth ventricle becomes enlarged, with cyst formation.

®    The Dandy-Walker malformation can occur as part of genetic disorders and chromosomal aberrations.

®    Teratogens including infection, viral, alcohol and diabetes have been quoted as possible causes of the malformation.

Treatment

¨      Treatment of the Dandy-Walker syndrome has undergone evolutionary change since the entity was originally recognized, and even today there is no universal agreement regarding its management.

¨      Dandy and Blackfan were the first to describe posterior fossa exploration and excision of the cyst membrane. This was the only treatment available for several decades until the advent of ventricular shunting devices.

¨      Initially, shunting was performed only if membrane excision did not successfully control the hydrocephalus.

¨      Subsequent reviews of several clinical series led to the recog­nition that the incidence of success from membrane excision was sufficiently small that the primary mode of therapy should be shunting.

¨      Raimondi and co-workers have advocated simultaneous Y shunting of the lateral ventricles and the posterior fossa cyst because there is a significant incidence of aqueduct occlusion and because shunting of only the lateral ventricles leads to upward transtentorial herniation from lack of decompression of the cyst.

 Case Presentation:

A young 12 years age patient came to the clinic 30-Jan-2005 for consultation. He had mumps 20 days ago and was admitted to hospital 05-Jan-2005 with clinical picture of lethargy and fever and was treated for meningoencephalitis with CSF WBC 960 and negative CXS results and Latex was also negative. MRI performed 09-Jan-2005 made confusion in the diagnosis, were an arrested Dandy-Walker malformation was seen in its typical triad.

The patient was normal before the mumps attacks with slight enlarged head circumference, without signs of increased ICP. Fundoscopy all the time was normal and neurological examination was normal. The IQ was normal and the parents were advised only to repeat the MRI after 3 months. In case of silent clinical state, it was decided not violate the arrested pathology.

Conclusion: The case was found accidentally by admitting the patient for other causes. There is a golden rule in medicine and in the life in general : don't trigger the silent water. The arrested malformations must be left for follow-up and the policy of wait and see. In case of progressive clinical manifestations , if there is any, then surgical interference must be attempted.

BIBLIOGRAPHY

• Lowdermilk Perry , Maternal Nursing , Mosby Publication , 7^th Edition , Page No:-894-899.
• Linda K Brown , Myles Text Book For Mid Wifwives , Churchil Living Stone  Publication , 13^th Edition , Page No :-  304-308.
• Susan L .Ward And Shelton M. Hisley , Maternal Child Nursing Care, Jaypee Publication, 1^st Indian Edition , Page No:-318-323
• D.C Dutta , Text Book Of Obstetrics , New Central Book Agency Publication, 6^th Edition , Page No:-296 .