Category Archives: Congenital Birth Defetcs
Long QT Syndrome (Prlonged QT Syndrome)
Long QT Syndrome (Prlonged QT Syndrome) is caused by a defect in the heart’s electrical circuit, often resulting in loss of consciousness. It may also cause sudden death due to heart failure.
- Genetic defects, heart disorders and using certain drugs can result in long QT syndrome.
- Abnormally fast heart rate, which reduces the efficiency of the heart, is the cause of the common symptom of sudden loss of consciousness.
- An ECG and stress test can confirm long QT syndrome.
- The condition is usually treated with beta-blockers. Implanting pace makers may help regularize the heart beat. A surgical procedure may be beneficial in some cases.
The interval between two consecutive points on the electrocardiogram is referred to a QT. In those who have long QT syndrome, this interval is abnormally prolonged. This condition usually affects one in 7,000 people. It has a fatal outcome in more than 3,000 children and youngsters in the United States alone. A genetic defect is the usual cause for long QT syndrome in children. Screening for genetic abnormalities may help diagnose this condition. This abnormality may be common within the family if some other members have suffered sudden deaths without any apparent reason. Use of certain drugs or some other disorder may precipitate long QT syndrome too. This is the usual cause for this condition developing in the adults.
In people with long QT syndrome, abnormally fast heart rate may develop at the time physical exertion, or with emotional excitement. When the heart beats too fast, its capacity to pump out sufficient amount of blood becomes greatly reduced. Inadequate blood supply to the brain often results in sudden unconsciousness. It can even be fatal. Deafness is common in people with this abnormal condition.
An ECG may be conducted on children, as well as adults, who have become suddenly unconscious without any apparent reason. Often, some form of stress is introduced during the test so that the performance of the heart can be better assessed. A person at rest can take the test after the administration of certain drugs into the vein. In exercise tress testing, the person either walks on the treadmill or works on an exercise bicycle during the test. It can simulate the working of the heart during exertion.
Drug treatment with beta-blockers is often effective in most people who have the long QT syndrome. In some cases, drug therapy may not yield the desired results. Such people may benefit from the installation of pacemakers to regulate the abnormal heart rate. Some people may need a combination of a defibrillator and a pacemaker. The implanted defibrillator can deliver an electric shock to the heart whenever a lethal heart rhythm develops. It can revive the heart and prevent fatal heart attacks. Some children with long QT syndrome may have to be restricted from competitive sports due to the high risk of sudden death occurring during exertion.
A surgical alternative found to be effective in preventing abnormally fast heart rate is termed cervicothoracic sympathectomy. In this procedure, a nerve located in the neck is severed, as it has the effect of preventing abnormally high heart rate, which is the cause of loss of consciousness and sudden death due to heart failure.
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Congenital Defects Of Limbs And Joints
- Intra-uterine growth retardation, genetic abnormalities, and displacement of different parts due to mechanical action, can result in limb and joint defects.
- Physical examination of the newborn, ultrasound scan, and x-rays, can diagnose these defects.
- Surgical correction is often required to restore normal function and appearance.
Incomplete development, missing of certain parts, and structural deformities, can occur due to various reasons. Often other defects or abnormalities may co-exist with limb and joint defects. Genetic factors may affect the development of the bones in the limbs and joints. Disruption in the normal growth and development of hands and legs can occur in the mother’s womb. Constriction of the growing parts by muscle fibers may prevent further development. Hip dislocation may occur due to mechanical force, especially by the pressure exerted on the limbs at the time of birth. Chromosomal defects may be responsible for certain abnormalities in the hands and legs. Sometimes the reason for the defect cannot be determined.
As a side effect of a drug named thalidomide, used for treating morning sickness in pregnant women, many infants were born with severe deformities in the period between the 1950s and the 1960s. Instead of proper limbs, they had poorly developed hands and legs or even short stumps in their place.
Defects of the limbs occur either horizontally or vertically. Difference in the length of the limbs and abnormality in only one side of the hand may occur. Children learn to use the malformed hands or artificial limbs quite well. Surgical correction is done whenever possible to enhance the function and appearance of the limbs. Prosthesis can be fitted, if necessary, once the infant learns to sit independently.
Birth defects involving the hands occur frequently. Incomplete development of one of the hands, absence of a hand or certain parts of a hand, duplication of fingers, and webbing between the fingers, are some of the common defects. Missing several fingers as well as having extra fingers, usually an extra thumb or a little finger, are also frequently occurring deformities. Overgrowth of the hands is another defect in which either the fingers or the entire hand is larger than normal. Surgical correction is often required to restore not only the normal appearance, but also the proper function of the hands.
A condition called developmental dysplasia of the hip may occur in some infants, more frequently in girls and breech babies. This defect used to be known as congenital dislocation of the hip, as the head of the femur or the thigh bone, and the socket in the hip bone of the infant, do not form the hip joint, but are found separately. The socket may not be large enough to accommodate the head of the femur. Infants whose close relatives have this condition, as well as girls who are born in breech position, should be examined at birth for any difference in the appearance between the two sides of the hip. An ultrasound scan also should be done to confirm the diagnosis.
Early diagnosis of the condition enables early treatment. Physical examination of the infant followed by ultrasonography is preferred in the first four months. Older infants may be subjected to x-ray examination. Using triple diapers was an earlier method to correct this condition, but it is no longer preferred. A soft brace called Pavlik harness is considered the ideal treatment for this defect. This brace spreads the knees outwards and upwards and holds the leg in this position ill the dislocation is resolved. If the condition does not improve by the time the infant is six months old, the hip-joint is fixed surgically.
Another birth defect called clubfoot may occur in some infants either due to the position of the foot in the womb or because of certain structural abnormalities. In this condition, also known as talipes equinovarus, the hind foot and the ankle are turned inwards and downwards. The forefoot is also twisted inwards. When the defect is found to be due to the abnormal positioning of the foot when the fetus was inside the womb, it is referred to as positional clubfoot. On the other hand, if structural abnormality is present, it is regarded as true clubfoot. Underdevelopment of the calf muscles and leg bones are often present along with true clubfoot.
If the defect is found to be positional clubfoot, keeping the affected part in a cast and stretching the ankle and the foot of the infant with physical therapy may be sufficient to correct the abnormality. The same treatment given early enough may help newborns with true clubfoot also, but surgical correction is often required.
Inwardly turned foot is also a defect, referred to as metatarsus adductus, which often limits the mobility of the ankle and other joints. Depending on the extent of the defect, various treatment options are considered. Mild defects usually get resolved spontaneously. Specially designed orthopedic shoes and splints may have to be worn by the child for several years. In a few cases, surgical correction may be necessary.
Frozen joints, which cannot be bent, is an abnormal condition known as arthrogryposis multiplex congenita, occurring in some newborns. Muscular weakness is also present in most cases. The exact cause of this abnormality is not clear. Reduced movement of the fetus inside the womb may be a reason for the frozen joints and weak muscles. The nerves responsible for bringing about the joint movements are also found to be impaired in some infants with this condition. Dislocation of knees, hips and elbows is also common. Non-surgical treatment involves keeping the affected parts in casts and manipulating the joints and exercising them for better movement. Surgical option, in which the joints are released from the tissues connected to them, is found to be beneficial in restoring normal movements of the joints.
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Congenital Facial Defects (Cleft Lip and Cleft Palate)
Congenital defects may affect the muscles and bones anywhere in the body, but they occur more frequently in the head, face, spinal cord and the different parts of the lower limbs. Incomplete development of the muscles and the bones is the usual reason of the birth defects. Misalignment of the different structures also may cause abnormalities in the infant. Bone and muscle defects can impair the function of the affected body part, in addition to the abnormality in appearance. Surgical correction is required if the defect causes severe symptoms. Surgery may involve the realignment of the various structures and extensive reconstruction of the affected parts.
Cleft palate and cleft lip are the most frequently occurring congenital defect affecting the face and the head of the infant. In cleft lip, the upper lip is divided into two beneath the nose. Cleft palate results from the incomplete closure of the roof of the mouth causing the nose and the mouth to remain connected. These two defects are usually present together in the affected infants.
In addition to facial disfigurement, cleft lips impede feeding, as the infant is unable to close its mouth around the nipple to suck in the milk. Speech, as well as eating, is affected by cleft palate. The roof of the mouth can be closed by a temporary dental device to facilitate feeding. Surgical correction is the permanent solution for both cleft palate and cleft lips. A folic acid supplement taken prior to pregnancy, as well as during the first three months of pregnancy, is found to be effective in reducing the risk of these defects in the infant.
Small lower jaw is a facial defect which interferes with breathing and feeding. This condition may be caused by either Treacher Collins syndrome or Pierre Robin syndrome, both of which cause several other abnormalities related to the face and the head. Surgical correction of the small lower jaw can help reduce the difficulties with feeding and breathing.
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Congenital Hydrocephalus
Accumulation of cerebrospinal fluid in the ventricles or chambers in the brain, leads to hydrocephalus which results in the enlargement of the head, and the impairment of the normal growth and development of the brain.
- Hydrocephalus results from the lack of drainage of the cerebrospinal fluid in the ventricles of the brain.
- Enlargement of the head, and impairment of mental and intellectual development of the baby, are the usual symptoms.
- An ultrasound scan, CT scan, or magnetic resonance imaging can help determine the severity of the condition.
- Surgical insertion of a shunt which drains the excess fluid out of the brain is often required.
The cerebrospinal fluid which surrounds the brain is produced in the ventricles of the brain. The fluid normally drains from the brain to another area where the blood absorbs it. When the drainage is not proper, the fluid accumulates in the brain, resulting in hydrocephalus, which is commonly referred to as ‘water in the brain’. The excess fluid leads to pressure build up and compression of the brain. The cerebrospinal fluid drainage may be prevented due to various reasons. Congenital defects, brain tumors, or brain hemorrhage in infants, especially in prematurely born babies, may impede proper drainage of the fluid.
When congenital hydrocephalus is not treated, the infant’s development may suffer, and the head may remain very large. The extent and severity of brain compression due to hydrocephalus can be determined by an ultrasound scan or a CT scan. Magnetic resonance imaging of the head can also help in accurate diagnosis.
The pressure inside the brain is kept normal by various treatment procedures. A lumbar puncture can relieve the pressure temporarily, but a shunt can open up a permanent drainage for the excess cerebrospinal fluid accumulating in the brain, thus keeping the pressure within limits. In a ventriculoperitoneal shunt, the fluid from the ventricles of the brain is shunted via a tube which runs under the skin to the abdominal lining. A valve in the shunt regulates the pressure in the ventricles by channeling the excess volume of fluid away from the brain. The shunt is often left in place even after the child outgrows the need for it later on in life. Ventriculostomy is another surgical procedure, in which a hole is made between the third ventricle and the fourth one, which is often helpful in treating hydrocephalus in certain cases.
Lumbar punctures are often done to reduce the pressure in the brain till a permanent shunt can be fixed surgically to regulate the pressure.
Reduced mental development and learning difficulties occur in many children who have congenital hydrocephalus, especially when the condition had developed early in the fetus. When this condition develops later in pregnancy, the associated symptoms are less severe. Some children with hydrocephaly may have normal levels of intelligence.
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Neural Tube Defects
Abnormal development of the neural tube in the early stages of embryonic development results in various defects of the brain and the spinal cord which originate from the tissues of the neural tube.
- Severe nerve damage, often leading to mental retardation, learning disabilities, lack of bowel control, paralysis and even death may result from neural tube defects.
- A blood test for alpha fetoprotein, amniocentesis and ultrasound scan can diagnose the presence of neural tube defects in the fetus.
- Taking folic acid supplements prior to and in the first three months of pregnancy significantly reduces the risk of neural tube defects.
- Surgical correction of neural tube defects is required in most cases.
During embryonic development, the neural tube develops from the folding over of a groove into a tube-like structure. The brain, spinal cord, and their protective coverings called meninges, develop from the different tissue layers of the neural tube. When abnormalities occur in the development of the neural tube, it affects the development of these structures which originate from it. Complete absence of brain may result from a severe defect in the neural tube development. This condition, known as anencephaly, is always fatal. Incomplete closure of the neural tube may result in abnormalities of various degrees. In mild cases, the open channel may cause only a bone defect such as spina bifida occulta. In this condition, the spinal cord and the meninges covering it are intact, but the bony tissue that makes up the spine does not close completely. It does not cause any symptoms in infants. In some cases of open channel defects, a meningocele may protrude through the opening. If part of the brain tissue protrudes along with the meninges, it is known as a meningoencephalocele. In a similar condition called meningomyelocele, the spinal cord tissue and the meninges protrude. When the brain tissue is exposed without the meninges, it is called an encephalocele and the protrusion of the spinal cord without the meninges is termed myelocele. The protrusion of the brain tissue or the spinal cord tissue through incompletely closed openings results in greater damage to them.
Abnormalities such as tufts of hair, small tissue masses, and openings in the surface of the skin known as dermal sinuses, may be present at the lower back of infants who have a condition called occult spinal dysraphism. Dark pigmented patches known as flame nevus and hemangioma may occur in less serious cases. If the spinal cord is exposed to the outside through an opening, the chances of bacterial infections developing and leading to meningitis are very high. Gradual damage to the spinal cord may occur due to continued exposure. Sometimes, a fatty tumor known as lipoma may develop on the spinal cord, which damages the nerves in the spinal cord. It is essential that any opening exposing the spinal cord tissues or the meninges should be surgically closed to prevent further damage. Infants born with these visible abnormalities should have further investigations such as an ultrasound scan or an MRI scan to examine the defects in the underlying spinal cord and associated tissues.
Some neural tube defects occur due to genetic abnormalities. The defects begin to develop in the very first weeks of pregnancy, even before pregnancy is recognized by the mother. The symptoms of neural tube defects depend on the damage caused to the brain and spinal cord. Meningomyeloceles and meningoencephaloceles are conditions resulting in significant disability in the infant. Fluid accumulation in the brain, known as hydrocephaly, may develop in some cases. Bone and joint defects, lack of sensation of certain body parts and the skin, lack of control over bowel movements and urination, learning disabilities, and even paralysis, may be caused by neural defects.
Prenatal testing of the amniotic fluid or mother’s blood can detect neural tube defects present in the fetus. When alpha-fetoprotein is present in high levels, it is an indication of abnormalities in neural tube development. The defects can be detected by an ultrasound scan done later in pregnancy too. Folic acid supplements taken prior to, and in the first trimester of pregnancy can significantly reduce the risk of neural tube defects in the infants. All women who are likely to conceive should take folate supplements as a precautionary measure. Surgical closure of the defect after birth is the treatment for this condition.
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Overview Of Neurological Birth Defects
Neurological Birth defects may occur in the brain and spinal code of the infants due to incomplete or faulty development of these structures in the fetus.
- Some defects occur very early in the fetus while others develop later in pregnancy.
- Paralysis, retardation of mental and intellectual development, lack of sensation in certain parts of the body, and incontinence, are some of the usual symptoms.
- CT scan or Magnetic resonance imaging can diagnose brain and spinal cord defects.
- Surgical repair of certain abnormalities resulting from these defects is possible, but many defects cause permanent disabilities.
Certain brain and spinal cord defects such as neural tube defects develop very early in pregnancy, usually in the first few weeks. Others like hydrocephaly and porencephaly may develop much later. Many characteristic structural and morphological abnormalities result from defects in the brain and spinal cord.
When the brain tissue or the tissue of the spinal cord is affected by defective development, it results in symptoms typical of brain damage or those of spinal cord damage. Severe brain damage can have fatal consequences but less severe defects often result in various degrees of disability depending on the extent of damage caused to the brain. The usual symptoms of brain damage include paralysis, seizures, lack of mental development, reduced intellectual ability and learning difficulties.
Severe spinal cord damage can also result in paralysis. Other common symptoms include incontinence, lack of control over bowel movements, lack of sensation in the body parts below defective area of the spinal cord, decreased sensation of the skin etc. Computed tomography, as well as magnetic resonance imaging, can provide accurate images of the structure of the brain and the spinal cord, and help detect any defect occurring in these organs.
Abnormal growths, swellings, and incompletely closed openings are surgically corrected as soon as possible. The damage that has already occurred to the brain as well as to the spinal cord may be irreversible, but surgical repair of abnormalities help in improving function and reducing complications in future. Immediate medical intervention and surgical correction of certain defects facilitates further normal growth and development of the infants.
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Omphalocele and Gastroschisis
Omphalocele and Gastroschisis are congenital defects or openings of the abdominal wall through which internal organs are exposed.
Omphalocele: It is a defect occurring in the center of the abdomen where the bellybutton is normally located. Not only the skin, but the fibrous tissue, as well as the muscular layer are absent in the area, and the intestines covered by thin membranes bulge out through this opening. The umbilical cord of the newborn arises from the center of this defective area. Ultrasound scans can detect the presence of omphalocele in the fetus. Often, other congenital defects and genetic abnormalities are found to occur in infants who have this condition.
Omphalocele can be surgically corrected after sufficiently stretching the skin in the area around the defect. If the defect is too large, skin flap taken from elsewhere in the body may have to be grafted on to the defective area.
Gastrochisis: It is a defect of the abdominal wall, often occurring to the right of the newborn’s umbilical cord. The intestines usually spill out through this opening and get damaged by contact with the amniotic fluid in the womb. Ultrasound scan during pregnancy can detect gastroschisis in the fetus.
The exposed portions of the intestines may have become damaged by the amniotic fluid in the womb as well as by the pressure at the time of birth. The defect can be surgically corrected after inserting the herniated portions of the intestine back inside the abdominal cavity. If the hernia is very large, a silo is created, and the exposed parts enclosed in a covering is suspended above the infant. Gradual compression of the silo over many days or even weeks helps to push the herniated parts back into the abdominal cavity. The defect is surgically closed afterwards.
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Hirschsprung’s Disease (Congenital Megacolon)
Hirschsprung’s disease is a birth defect in which the nerves which regulate the rhythmic intestinal contractions are missing in a portion of the large intestine, affecting the movement of the fecal material towards the anus. This condition, which causes the symptoms usually associated with intestinal obstruction, is also known as congenital megacolon.
- The large intestine is affected and normal contractions of the intestine are absent in the affected area.
- Delay in passing the meconium by the newborn infant is the first indication. Abdominal distension, vomiting, and refusal of feeds, are the other symptoms which develop in the infant later on.
- Biopsy of the rectum, and manometry to measure the rectal pressure, help diagnose this condition.
- Surgical intervention is necessary, and it is aimed at facilitating the normal passage of fecal material through the large intestine.
The rhythmic movement of the large intestine is controlled by a several nerves in the intestinal wall which brings about the synchronized contractions which move as a wave down the digestive tract, carrying the intestinal contents along. Bowel movements are possible because of these contractions. When Hirschsprung’s disease (congenital megacolon) affects a section of the large intestine, it is unable to contract in the normal way, thus impeding the passage of the stool to the anus.
Normally, meconium, a sticky substance, dark green in color, is passed by the infants soon after birth. Hirschsprung’s disease is suspected when the passage of this fecal material is delayed. Symptoms of intestinal obstruction such as abdominal distension, vomiting with bile in the vomit, and refusal to feed may appear later on. When only a limited area of the intestine is affected by Hirschsprung’s disease, the associated symptoms also may be mild, often resulting in the condition remaining undiagnosed till much later in childhood. Abdominal distension, passing ribbon-like stools, and the child not gaining weight normally, are also indications of Hirschsprung’s disease. Rarely, the only indication of this condition is chronic constipation.
A potentially fatal condition called toxic enterocolitis may result from Hirschsprung’s disease (congenital megacolon). Fever and abdominal distension develop suddenly, accompanied by explosive diarrhea, which may be bloody in some cases.
Biopsy of the rectum, and measuring the pressure in the rectum known as manometry, are the tests to detect Hirschsprung’s disease accurately. Another test called barium enema also may be helpful. In this test, barium as well as air is introduced into the rectum, and then x-rays are taken.
Toxic enterocolitis may develop if Hirschsprung’s disease (congenital megacolon) is not treated rapidly by removing the abnormal parts of the intestine. The unaffected part of the intestine is then attached to the rectum to facilitate the normal functioning of the digestive system. Occasionally, when an infant is severely ill, an alternate route is created for the passage of stools by a procedure called colostomy. The healthy part of the intestine is temporarily connected to an opening created on the abdomen to which a plastic bag is attached for the collection of stool. The defective, disconnected portion of the intestine remains in the abdominal cavity till the infant recovers, and becomes older and ready for further surgery. In a surgery known as the pull-through procedure, the defective portion is removed and the healthy portion of the intestine is reattached to the rectum for normal functioning. The opening in the abdomen is also closed.
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Congential Diaphragmatic Hernia
A weak spot or hole in the diaphragm allowing the protrusion of certain abdominal organs into the thoracic cavity results in the condition referred to as congenital diaphragmatic hernia.
In 90% cases of diaphragmatic hernia, it is found to be present on the left side of the body. Abdominal organs such as stomach and intestine may be protruding into the thoracic or chest cavity. Spleen and liver also may be herniated. The lung on the side of the hernia may not be fully developed when the hernia is quite large. Certain heart defects are found to occur in infants who have congenital diaphragmatic hernia.
At the time of birth, as the newborn takes in the first breath and cries, the gastrointestinal tract rapidly enlarges getting filled with air. The herniated digestive organ too becomes large and presses against the vital organs in the chest such as the heart and the lungs. This causes considerable breathing difficulty in the newborn, usually immediately after birth. Diaphragmatic hernia can be detected by an x-ray. Pre-natal ultrasound screening can detect this defect in the fetus. Surgical intervention is necessary to repair the weak spot or hole in the diaphragm. When it is detected before birth, surgery is planned in advance. Supplementary oxygen is given to the infant through a breathing tube, or respiratory assistance is provided by a ventilator, if necessary, to relieve breathing difficulty.
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Biliary Atresia in Children
Biliary atresia in children is a condition resulting from the partial or complete destruction of the bile ducts, which prevents the bile from reaching the small intestine.
- Biliary atresia causes the accumulation of bile in the liver leading to permanent liver damage.
- Jaundice, characterized by the yellowing of the skin, dark colored urine and pale stools are the usual symptom. The liver is enlarged.
- Ultrasound scan and blood tests help in diagnosing the condition. The bile ducts as well as the liver can be surgically examined for accurate assessment.
- Bile ducts are created surgically to facilitate the flow of bile into the intestine.
The functions of the bile prodiced by the liver include digestion of fats and the removal of the waste products formed by the chemical processes taking place in the liver. Bile is collected by the bile ducts in the liver and then carried to the small intestine. Biliary atresia causes the accumulation of the bile within the liver, and some of it gets into the blood, resulting in the characteristic yellowing of the skin. Eventually, the liver becomes permanently damaged, as a condition called biliary cirrhosis develops in the infant, usually within two months of birth.
When infants have biliary atresia, they pass dark colored urine and very pale stools. The discoloration of the skin also progresses. In about two weeks of birth, a physical examination of the infant may help the doctor feel the enlarged liver which feels firm to touch. Within two or three months, infants with this condition may develop severe growth retardation. Itching and irritability are usually present. Large, visible veins on the abdomen and enlargement of the spleen are also common symptoms.
If biliary atresia is diagnosed within the first two months of life, biliary cirrhosis can be prevented. Several blood tests and ultrasound scans may be required to make an accurate diagnosis. If biliary atresia cannot be confirmed by these tests, the bile ducts as well as the liver is surgically examined to reach a conclusive diagnosis. A biopsy of the liver may be done too.
A permanent drainage for the bile needs to be surgically created. In about 50% of cases, bile ducts connecting to the small intestine can be constructed surgically and these replacement bile ducts facilitate the normal functioning. Infants, in whom surgical construction of the replacement bile ducts could not be done at birth, often need liver transplantation in about two years.
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