The Spina bifida is a congenital defect of the posterior arch of the spine due to failure of closure of the neural elements of the spinal canal in the early development of embryos. (1,2,3)
In the early stages of neural plate formation of a gap is formed which then form the neural neural tube. Pipe is then a neural network of the brain and spinal cord. While in the womb, the tissue that forms neural tube does not close or not closed properly. This led to the opening in the vertebrae, which surrounds and protects the spinal cord. The process of neural tube closure takes place during the fourth week of embryonic life, and usually before a woman knows her pregnancy and ended. Neuralisasi process began at the dorsal midline and continues to sefal and caudal direction. The most recent closure occurred at the posterior end of the day-to-28. (3.4)
Sometimes it does not close the neural groove, this is because the error induced by chorda spinalis which lies beneath or under the influence of environmental teratogenic factors neuroepitel cells. Neural networks in this case remains open to the outside world. Disruption of this process causes neural tube defects which are then classified as disrafisme. Disrafisme divided into two cranial and spinal. (3,4)
Disrafisme spinal / myelodysplasia is a congenital anomaly of the spinal fusion caused by the failure of the structures at the midline. When the lesions confined to the bones (arch) whether one or more posterior levels, the disorder is referred to as spina bifida. (4, 5, 6)
If the neural elements involved it will cause paralysis and loss of sensation and sphincter disorders. The degree and localization of defects that occur vary. Light on the circumstances which may be found only a failure of fusion of one or more of the posterior arch of the vertebra at the lumbosacral region. Sometimes this disorder does not cause significant clinical symptoms. (1, 2,4,7)
Often the event of a defect in the posterior arch will give rise to disorders of the skin surface of the cover, which looks like a dimple, tuft of hair, skin or sinus fat mass.
Spina bifida can be classified into two types namely, spina bifida occult spina bifida and aperta (cystica). (1)
Spina bifida is a developmental anomaly characterized by defective closure of the bones in the spinal cord sheath so that the lining of the spinal cord and meninges may protrude (spina bifida cystica), or does not protrude (spina bifida occulta) .(2)
Several hypotheses of spina bifida include: (4)
1. Cessation of neural tube formation process as a particular cause
2. Excess pressure in the central canal of the newly formed rupture surface, causing neural tube
3. The damage to the walls of the newly formed neural tube as a cause.
Protrusion of the spinal cord and meningens cause damage to the spinal cord and nerves, resulting in decreased or impaired function of the body parts supplied by these nerves, or at the bottom. Symptoms depend on the anatomical location of spina bifida. Most occur in the lower back, the lumbar or sacral region, due to the closure of the vertebrae in place at the end of this section.
Figure 1. Spina Bifida
Spina bifida is approximately up to 1-2 of 1000 live births, but when a child has suffered, the risk for other children suffering from spina bifida increased 2-3%. A mother who has a baby with spina bifida, the risk of it recurring in subsequent pregnancies increases. (12,14)
Spina bifida is found primarily on Hispanic white and some in Europe, and in small amounts in the race Asian and African-Americans. Spina bifida occult type occurs in 10-15% of the population. While the type of spina bifida cystica occurs in 0.1% of pregnancies. Occurs more in women than men (3: 2) and the incidence increased in the China. (12,16)
This disorder often appears in the lumbar or lumbo-sacral junction. But can also occur in the cervical region and thoracic though small in scale. (7, 11)
Some of the problems most often arise in cases of spina bifida are: (5.11)
• Arnold-Chiari malformation, 90% of cases coincided with spina bifida in which some brain masses protruding into the spinal cavity.
• Hydrosefalus, 70-90% is usually also coincides with spina bifida. In this situation an increase in excess of cerebrospinal liquor.
• Disorders of the digestive and urinary disorders, where there is interference with the nerves which supply the organs. Children often have chronic infections or recurrent urinary tract infections are accompanied by damage to the kidneys.
Disorders of the extremities occur ± 30% of cases. Disturbance can be dislocation of the hip joint, club foot. These disorders can occur as primary or secondary due to muscle imbalance or paralysis.
Spinal marrow and spinal cord
Human spinal cord extends from the foramen magnum up to as high as the first lumbar vertebra or the second lumbar. The average length of 45 cm in men and 42 cm in women, has a cylindrical shape as the upper cervical segments and the segments thorakal, and ovals in the bottom segment of the cervical and lumbar segments, which is where the brachial nerve plexus and lumbosacral nerves.
In the early stages of fetal growth, it fills the spinal cord along the vertebral canal. When the baby is born, this spinal cord extends down to the lower limit of the third lumbar vertebra. At the end of young adulthood, such as spinal cord reaches the adult position, where he stopped lumbar intervertebral disc height and lumbar I II. The place where the spinal cord ends change over growth due to the vertebral column grows faster than the spinal cord. The length of the spinal cord as a whole is 70 cm. Have an enlarged spinal cord in two places, namely cervical (segment C Th II-III) and lumbar (segments LI-SIII). This is where the nerves that menginnervasi upper and lower extremities. Lower end of the spinal cord conus medullaris tapered shape.
Human spinal cord is divided into 31 segments (8 cervical segments, 12 segments thorakal, 5 lumbar segments, segments 5 sacral, and 1 coccygeal) that of each segment, except for the first cervical segment, a pair of dorsal root and ventral root and a pair of spinal nerve. The first cervical segment ventral root only. Ventral and dorsal root in the intervertebral foramina joined to form a spinal nerve. Spinal nerves leave the vertebral canal through the intervertebral foramina: I appeared on the cervical atlas; cervical VIII emerged between cervical VII and thorakal I. Other spinal nerves exit below the vertebrae that correspond.
Because of differences in growth rates of the spinal cord and vertebral column, spinal cord segments do not correspond with the column vertebranya. Cervical level, the tip of the spinal vertebrae in accordance with the kordanya; but according to the cervical spine VI VII spinal cord level. In the region thorakal above, the tip was two spinal segments above the spinal cord that corresponds, according to the so thorakal IV to VI cord segment. In the lumbar region of the lower and upper thorakal, the gap between the vertebrae and the cord is tingak three segments, so spinal lumbar thorakal X according to I. Collection of lumbosacral nerve roots in the phylum terminale called the cauda equina. (6)
Spina bifida is a congenital anomaly that stands alone without any other abnormalities. Although researchers believe that genetic and environmental factors may be involved in this disease as well as in other neural tube defect disease, 95% of babies with spina bifida and other neural defects diseases born of parents who have no family history of spina bifida. While spina bifida appear in certain families without following a certain pattern. If the pregnancy of a child born with spina bifida, the risk of recurring in subsequent pregnancies increases greater. Spina bifida may also occur as part of a syndrome with other congenital abnormalities. Here the pattern that occurs may be different from spina bifida who stands alone.
Women with certain chronic problems, including diabetes and epilepsy (with certain anticonvulsant drugs) are at high risk (average 1:100) to have a baby with spina bifida. Folic acid deficiency in pregnant women is also associated with spina bifida. (3,4,5)
The process of formation of human embryos through 23 stages of development after fertilization each stage takes an average of over 2 -3 days. There are two processes of formation of the central nervous system. First, the primary neuralisasi, namely the formation of neural structures into the pipe, the same thing also happens in the brain and spinal cord. Second, secondary neuralisasi, namely the formation of the lower spinal cord, which forms part of the lumbar and sacral. Neural plate is formed on the stage to the 8 (day ke17-19), neural fold formed at stage 9 (days 19-21) and the fusion of the neural fold formed in the second stage 10 (days 22-23). Some stages are often susceptible to interference, ie during the stage of 8-10 (ie, when the neural plate to form the first fold and fuse to form the neural tube) this can cause craniorachischisis, which is one of a rare form of neural tube defects (NTD). (10,11)
Comparison of the normal and embryology of spinal cord
spinal cord in spina bifida
At stage 11 (days 23-26), when this happens the closure of the rostral neuropore. Failure at this stage results in anencephaly. Mielomeningocele occur due to disturbances in stage 12 (days 26-30), when this happens the closure of the caudal neuropore. (10)
(Taken from the literature 10)
(Taken from the literature 10)
Studies on mouse embryos has gained some unifying theory that can explain the anomalies that occurred in NTD. Concomitant defects such as hydrocephalus and brain malformations such as the back of the Chiari II malformation is one such example. McLone and Naidich, in 1992, put forward a proposal on a unifying theory of neural tube defects in explaining the anomaly on the back of the brain and spinal cord anomalies. Based on these investigations, it is known that the failure of the neural folds to close properly, causing defects in the dorsal or myeloschisis. This leads to CSF leak from the ventricle to the central canal and even reach the amniotic fluid and the resulting collapse of the ventricular system. (10)
Failure of the ventricular system to increase the size and the volume down and causing herniation of the cerebellum to the top. In addition, the posterior fossa is not developed in accordance with the actual size, and not migrating neuroblasts in accordance with the normal exit from the ventricles to the cortex. (10)
As for the other theories that explain the occurrence of spina bifida folic acid deficiency that is the theory. (11) The risk of giving birth a child with spina bifida is closely related to folic acid deficiency, especially those that occur early in pregnancy. Until now not known why folic acid can lead to spina bifida. (7,10,13)
Malformations of the Central Nervous System (10)
Spina Bifida Classification
Spina bifida can be classified as follows:
Spina bifida occult
This form of spina bifida is the most lightweight. Such abnormalities are usually found sacrolumbal area, mostly covered by skin and not visible from the outside except for a small lump of hair on the infestation area. On this note the spinal cord and nerves are usually normal and neurologic symptoms was not found. Spina bifida occult is often diagnosed by accident when someone is having X-ray examination or MRI for other reasons. On neural tube defects (NTD) of this type, there was no herniation of menings through a defect in the vertebra. Lesions that form latent or hidden under the skin. On this type is not accompanied by hydrocephalus and Chiari II malformation. (3,6,10,12,13)
Often the lesions on the skin of a hairy patch, dermal sinus, dimple, hemangioma or lipoma and sometimes neurologic disorders arise in the region of the thoracic, lumbar, and sacral. During the growth of children can also be found a mild spastic paralysis. (1,10)
Early detection of occult spina bifida is important to remember that neurological function can be maintained only by surgical intervention at an early stage and appropriate. (6)
(Taken from the literature 7)
This group includes disorders: spinal lipoma, dermal sinus, lipomielomeningokel, diastematomielia, hypertrophy phylum terminale and sacral anterior meningokel. (4, 6)
a. Spinal lipoma
Embryological development of the spinal lipoma is not known in detail. In these cases, the normal spinal elements still exist but the location is abnormal. Spinal lipoma is a state where there is an entry in the fatty tissue in the nerve tissue, resulting in damage and result in neurological dysfunction. (6)
In general, there is no neurological disorder, but it sometimes happens, because with age, lipomas will grow and suppress the nervous system. This can be either a lipoma or attached lipomeningomielokel meningomielokel. Radiological examinations carried out as in meningokel. (4)
Image. 7. Spinal Lipoma
(Taken from the literature 14)
b. Dermal sinus
Dermal sinus a tunnel hole (tract) under the skin from the epidermis to the inner layer, through the dura mater and to the subarachnoid cavity. Outward appearance of a dimple or skin that sometimes dimpel containing a lock of hair at the surface and mostly in the lumbar region. This disorder is usually asymptomatic, but when penetrating dura mater, often leading to recurrent meningitis. (6)
Image. 8. Dermal Sinus
(Taken from the literature 14)
Lipomielomeningokel often detected as a lump of fat on the back of the body especially in the lumbo-sacral region. The disorder is often associated as a cosmetic deformity, but actually it is a complex congenital anomaly that is not only composed of fatty infiltration of the neural network, but also contains a large meningokel or meningomielokel. (6)
Image. 9. Lipomielomeningokel
(Taken from the literature 14)
Image. 10. Lipomielomeningokel
(Taken from the literature 14)
Diastematomielia is one manifestation of a rare spinal disrafisme and consists of these components:
- The parting of the spinal cord into two hemikord. Dura mater can
keep one or forming septa.
- There is a prominent cartilage of the vertebral bodies above and divide both hemikord.
- Location diastematomielia usually in thoracic or lumbar torako-,
and also there is usually an abnormality vertebra (hemivertebra). Characteristic
of this disorder is the presence of a strand of hair from areas of existing
Image. 11. Diastematomielia
(Taken from the literature 14)
Spina Bifida Aperta (cystica)
This type is a form of spina bifida who lost vertebranya lamina and the entire contents of the vertebral canal had prolapse to form a defect and the defect formed on menings sac containing CSF, defects are formed is called a meningocele. Meanwhile, if contains the spinal cord and nerve roots is called mielomeningocele. Spinal cord is usually derived from the primitive, the neural plate folds mangalami yet, this is called open myelomeningocele or rachischisis. And the closed myelomeningocele, the neural plate when fully developed and covered by a membrane and skin, although it still looks the posterior arch of the vertebra. (2)
(Taken from the literature 14)
Spina bifida is having a simple type of menings herniation through a defect in the vertebra. Spinal cord and nerve roots do not share the herniation through the dorsal part of the dural sac. Lesions arising in meningokel very important to distinguish from myelomeningocele due to handling and prognosis are very different. Babies born with meningokel on physical examination usually provide a normal picture. Babies born with meningokel no neurologic malformations such as hydrocephalus and Chiari II. This species is a rare form. (7,10)
Meningokel formed when meningens berherniasi through a defect in the posterior vertebral arch. Spinal cord is usually normal, although tethered, there siringomielia, or diastematomielia. Fluctuating mass median linea bertranluminasi that can occur along the vertebral column, usually located in the lower back. Meningokel mostly covered with fine leather and non-threatening to the patient. (1)
Careful neurological examination is recommended. Children who are asymptomatic with normal neurologic examination and the overall thickness skin cover meningokel may delay surgery. Before correction of the defect by surgery, the patient must be thoroughly examined by using a simple rontgenogram, ultrasonography, and computing tomography (CT) and magnetic resonance metrizamid or (MRI) to determine the extent of involvement of the neural network and if there are associated anomalies, including diastematomielia, spinal cord tied, and lipoma. Patients with cerebrospinal fluid leakage (CSS) or thin skin that covers the surgery should be done immediately to prevent meningitis. Head CT scan is recommended in children with meningokel for something to do with hydrocephalus in some cases. Meningokel anterior protruding into the pelvis through a defect in the sacrum. Symptoms of constipation and bladder dysfunction develops because of increased ukkuran lesions. Penderiita women may suffer from associated genital tract anomaly, including retrovaginal fistula. Simple Rontgenogram demonstrate defects in the sacrum and the CT-Scan or MRI illustrate the breadth of meningokel. (1, 2, 3)
(Taken from the literature 7)
Myelomeningocele is a state in which there is herniation spinal cord and nerve roots form a sac which also contains menings. This bag berprotrusi through the vertebrae and musculocutaneous defect. Spinal cord often end up in this bag and opens out with an expose of the central canal. The opening of the neural structure called the neural placode. This type of NTD is the most common form. Neurological disorders such as hydrocephalus and Chiari II malformation often accompanies myelomeningocele. In addition, myelomeningocele have a high incidence of malformations in relation to intestinal, heart, and esophagus, and kidney and urogenital anomalies. Babies born with myelomeningocele have orthopedic anomalies in the lower extremity and urogenital anomalies in through involvement in the region of the sacral nerve roots. (10)
Bumps appear underlined the middle along the spine. Most mielomenigokel oval with long axis oriented vertically. Most sites are in regions diminishing frequency torakolumbal and distal direction. Myelomeningocele sometimes accompanied by skin or surface defects that are only covered by a thin membrane. Neorologik abnormalities depend on the level, location, size and content of these abnormalities, because it may be paraplegia, paraparesis, monoparesis, urinary incontinence of urine and alvi, sensory disturbances and poor reflexes. (4, 6)
Image. 14. Myelomeningocele
(Taken from the literature 14)
The cause of myelomeningocele is unknown, but suspected there are several things that caused the myelomeningocele, among others: 1
All neural defect closure defects
Factor genetic predisposition
Risk repeated at ever suffered before (up to 3-4%)
In the two previous abnormal pregnancies (up to about 10%)
Factor nutrition and the environment
Use of folic acid supplementation during pregnancy on the mother greatly reduce the incidence of neural tube defects in pregnancies at risk. To be effective, the addition of folic acid should begin before conception and continued until at least the 12th week of pregnancy when the neural completed.
Use of certain medications are also known increased risk of myelomeningocele.
Valproic acid, anticonvulsants cause neural tube defects in about 1-2% of pregnancies if the drug is administered during pregnancy.
Clinical symptoms arise causing organ dysfunction and many structures, including bone, skin, and genitourinary tract, in addition to peripheral and central nervous system. In 75% of cases occur in the lumbosacral meningomielokel. Broad and neurological disorders depending on the location mielomeningokel.1
Lesions in the sacrum area causing incontinence bowel and bladder and is accompanied by anesthesia in the perineal region but without motor dysfunction. Newborns with defects in the lumbar region was typically have cystic structures such as bags are closed by a thin layer of tissue that partially terepitelisasi. The rest of the neural network can be seen under the membrane which is sometimes torn and leaking CSS. 1
Infant examination revealed paralysis of the lower limbs flaksid, the absence of deep tendon reflex, no response to touch and pain, and the high incidence of abnormal posture of the lower leg (including foot and hip subluxation). 1
Urinary incontinence and anal sphincter relaxation may be real. Thus, myelomeningocele in the lumbar region was likely to result in lower motor neuron signs due to disorder and damage to the conus medularis. Infants with myelomeningocele typically has increased neurological deficits after myelomeningocele moving up to the thoracic region. However, patients with myelomeningocele in the upper thoracic or cervical regions usually have a neurological deficit was minimal and in most cases did not have hydrocephalus. (1)
Management supervision of children and families with myelomeningocele require a multidisciplinary approach (surgeons, doctors and therapists). In the past, it is recommended that the myelomeningocele should be repaired as soon as possible after birth to maintain neurological function and to prevent further deterioration. However, several recent studies show the same long-term results in a delay surgery for several days (with the exception of leakage CSS). After repairing the myelomeningocele, most babies need to hydrocephalus shunting action. If symptoms or signs of brain dysfunction, back up, an indication for surgical compression of the cervical spinal cord and medulla early. (1)
Diagnosis of spina bifida can be detected through analysis of the individual's medical history (if not the baby), family health history and a detailed explanation about the pregnancy and birth. (13)
Symptoms vary, depending on the severity of damage to the spinal cord and nerve roots are affected. Some children have mild symptoms or no symptoms, while others suffered paralysis in areas that are innervated by the spinal cord. (12)
a. Spina bifida occult (3,5,7,8)
No interference with the neural tissue
Regio lumbar and sacral
dimpel shaped defect, tuft of hair, nevus
urinary tract disorders (mild)
b. Spina bifida aperta (1.6)
covered by skin
There was no paralysis
not covered by skin, but may be covered by a transparent membrane
There was paralysis
Neurological examination in infants is difficult enough, especially to distinguish voluntary limb movement to movement reflektoris. It is assumed that all responses to pain stimuli limb movements are reflexive, whereas the presence of contractures and deformities of the feet is characteristic of paralysis of the segmental level. (6)
Way of examination: ditelungkupkan baby in the arms inspectors, members of the movement of the forearm under the baby's hand the examiner. Considered is the location of scapula, neck size, shape and movement of the spine. (1, 8)
Diagnosis based on symptoms and physical examination. Early diagnosis of spina bifida can be done by performing prenatal examinations. In the first trimester, a pregnant woman to undergo a blood test called a triple screen. This test is a screening test for spina bifida, congenital syndromes and other abnormalities. Triple screen is a test that consisted of examination of alpha fetoprotein (AFP), fetal spinal ultrasound, and amniocentesis. (9,12)
Common screening method to diagnose spina bifida during pregnancy is the screening of maternal serum alpha-fetoprotein (MSAFP) in the second trimester, and ultrasonogafi.
MSAFP Screening measures the level of a protein called alpha-fetoprotein (AFP) which is formed naturally by the fetus and placenta. During normal pregnancy a small amount of AFP normally crosses the placenta and enter the maternal circulation. But if there is an abnormal increase of this protein in maternal circulation indicates that the fetus had a defect in the vertebra. However, MSAFP test is not specific for spina bifida and this test can not determine a definitive for any problems with the fetus. Thus if the detected increase in AFP is recommended to conduct additional investigations such as ultrasound or amniocentesis to diagnose. (8)
Ultrasound can provide information about the cause of the increase
AFP among other abnormalities in the fetus or the fetus is more than
one. In the spina bifida will appear open or vertebral abnormalities
which looks at the baby's brain that indicates the Spina Bifida. (8)
Figure 15. Amniocentesis technique (8)
On examination Amniocentesis AFP derived from fluid
amnion is directly taken from amniotic bag by using
85% of women with a baby with spina bifida, will have a serum alpha fetoprotein levels are high. This test has a false positive rate because if it is positive, further investigation needs to be done to confirm the diagnosis. Performed ultrasound can usually find a baby with spina bifida. Sometimes performed amniocentesis (amniotic fluid analysis). (12)
After the baby is born, do the following checks:
X-ray of the spine to determine the extent and location of abnormalities
CT scan makes it possible to look directly at the anatomy and bone defects. This examination is also used to determine the presence or absence of hydrocephalus or other intracranial abnormalities.
(Taken from the literature 14)
CT scan or MRI of the spine is sometimes performed to determine the extent and location of abnormalities (12)
MRI is the examination of choice for neural networks and to identify abnormalities in newborns. This examination makes it possible to view the associated anomalies both intracranial and intraspinal
(Taken from the literature 14)
Treatment of patients with spina bifida defect with the closure operation is formed, it is still controversial. Many scientific fields to avoid the implementation of urgent operasion neurological lesions when a high level (above L1), if there is a rare spinal deformity, or if there is hydrocephalus, in case the rest of the skin lesion performed early closure of the defect. (2)
Subsequent handling, is the teamwork. Idel team is a combination of neurosurgery, orthopedics, urology, pediatric, physiotherapy. As the growth of children, it requires the installation of splint and physiotherapist. But above all, children need a sense of both parents and their attention. (2)
The closure of defects of the skin
Performed if the patient has a good prognosis, carried out within 48 hours after birth. Neural plate covered with a careful and extensive skin incision. Only in this way ulcers are preventable.
Is the next priority. After a few days. Implemented ventriculo caval shunt.
Must be controlled. Orthopedic surgery is usually not done until week 3, then the child's infancy.
Handling of paralysis and deformities
For 6-12 months deformity treated with strecthing and strapping. Correction by using a plaster is not justified. Effects: bone fractures and can appear on the skin ulcers.
Open methods are best for deformity correction, but should be delayed until the child a few months old.
deformities corrected before the proximal distal deformity occurs. If it is balanced then the residual deformity that occurs dealt with osteotomy.
single splint is never used in correcting the deformity. Only be used to maintain the deformity, its implementation is reinforced by repeated strecthing. (2)
The risk of spina bifida could be reduced by taking folic acid. Folic acid deficiency in a woman must be corrected before the woman is pregnant, because these abnormalities occur very early. To women who plan to become pregnant are encouraged to consume as much as 0.4 mg folic acid / day. The need for folic acid in pregnant women is 1 mg / day.
Prognosis depends on the type of spina bifida, the number and severity of abnormalities, and the ugly when accompanied by paralysis, hydrocephalus, Chiari II malformation and other congenital defects. With proper care, many children with spina bifida can survive to adulthood. (6)
Myelomeningocele spina bifida with a bad prognosis. After surgery myelomeningocele have a life expectancy of 92% (86% survived for 5 years). (6)
Congenital abnormalities are abnormalities in the baby's growth arising from the life hasiI conception. Neural tube defects cause most of the congenital anomalies of the Central Nervous System (SSS) resulting from failure of neural tube to close spontaneously between weeks 3 and 4 in the development of the uterus. Spina bifida is a developmental anomaly characterized by defective closure of the bones in the spinal cord sheath so that the lining of the spinal cord and meninges may protrude (spina bifida cystica), or does not protrude (spina bifida occulta).
The risk of spina bifida could be reduced by taking folic acid. Folic acid deficiency in a woman must be corrected before the woman is pregnant, because these abnormalities occur very early. Management supervision of children and families with spina bifida require a multidisciplinary approach (surgeons, doctors and therapists).
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