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Meningomyelocele: Protrusion of the membranes that cover the spine but some of the spinal cord itself through a defect in the bony
encasement of the vertebral column. The bony defect is spina bifida.

What Is Meningomyelocele in
Children?
Meningomyelocele is a type of spina bifida, a kind of
birth defect in which the spinal canal and the
backbone dont close before birth. This type of birth
defect is also called a neural tube defect. The spinal
cord and the meninges (the tissue that covers the
spinal cord) may actually protrude through the childs
back. In some cases skin covers the spinal cord and
meninges, in some cases it sticks through the skin.
Spina bifida most commonly occurs in three forms:
spina bifida occulta, meningoceles, and
meningomyelocele. Of these three, meningomyelocele
is the most common.
According to the National Institutes of Health, this
condition occurs in about one out of every 800 babies.
Meningomyelocele is sometimes called
myelomeningocele (NIH).
Part 2 of 6: Causes

What Causes Meningomyelocele?


Doctors do not know exactly why this condition
occurs. It is thought that a lack of folic acid before and

during early pregnancy impairs the development of


the spinal cord.
The condition may also be partly genetic. Having one
child with this disease makes it more likely that you
will have another affected child. According to the
University of Connecticut Health Center, a woman
with one affected child has a one in 50 chance of
having another baby with the condition. Compare this
to the one in 800 chance for the general population.
The University of Connecticut Health Center further
reports that a woman with two affected babies has a
one in 25 chance of her third child also having the
condition (UCHC). In many cases, however, there is no
family connection.
Part 3 of 6: Symptoms

What Are the Symptoms of


Meningomyelocele?

A baby with meningomyelocele is born with the spinal


cord exposed. The baby may have a sac on his or her
mid to lower back.
The exact symptoms and their severity depend on
your childs particular case. Unfortunately, this tends
to be a severe type of spina bifida, with the spinal
cord typically being abnormal.
The affected body parts are those below the location
of the problem, specifically the legs, bladder, and
bowels.
In some children, these body parts are only mildly
affected. Others might have complete loss of control

of their bladder and/or bowel. The legs may be


partially or completely paralyzed or lack sensation.
Other possible symptoms include:

orthopedic deformities
hydrocephalus (buildup of fluid in the skull that
leads to swelling of the brain)

Chiari II malformation (structural defects in the


part of the brain that controls balance)
Because the spinal cord is exposed, a child with
meningomyelocele is at risk of developing bacterial
meningitis.
Part 4 of 6: Diagnosis

How Is Meningomyelocele
Diagnosed?
This condition is usually diagnosed during the second
trimester of pregnancy when women can have a blood
test called the quadruple screen. The test can screen
for several conditions including meningomyelocele,
Down syndrome and other congenital diseases of the
baby. Most women who carry a baby with neural tube
defects have elevated levels of maternal alpha
fetoprotein (AFP).
If the screen test is positive, further testing including a
pregnancy ultrasound and/or amniocentesis can
confirm the diagnosis.
Part 5 of 6: Treatments

How Is Meningomyelocele
Treated?
This condition is typically diagnosed during early
pregnancy, and some women opt to terminate the
pregnancy.
If you choose not to do so, your baby will generally
need surgery after birth. Prompt surgery can help
protect your child from infections such as meningitis.
Your doctor might prescribe antibiotics as an
additional measure in preventing these infections.
If your child has hydrocephalus, sometimes called
water on the brain, he or she may need to have a
shunt inserted. This shunt can drain the extra liquid
from around the brain, reducing pressure on the brain
into your childs abdomen.
Your child may not develop bladder control. If this is
the case, he or she might need a catheter to help
drain the bladder.
Because of the effect this condition can have on your
childs lower limbs, he or she might need to wear
braces, an orthopedic device that support the legs
and/or main part of the body.
In most cases, your childs treatment will be lifelong.
He or she will need to be seen regularly to assess any
developing problems. He or she may also need to use
a wheelchair for life.
Part 6 of 6: Prevention

How Can I Prevent


Meningomyelocele?
Because spina bifida and other neural tube defects
are believed to be related to low levels of folic acid,
its important to take folic acid supplements during
pregnancy. Folic acid is a B vitamin that is important in
the development of red blood cells and is important
for good health in general, especially during
pregnancy. Doctors advise taking a folic acid
supplement before you become pregnant.
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Article Sources:

Chiari malformation fact sheet. (2012, February 1). National Institute of Neurological Disorders and Stroke - National Institutes of Health. Retrieved
July 24, 2012, fromhttp://www.ninds.nih.gov/disorders/chiari/detail_chiari.htm
Gleason, P. E. (n.d.). Meningomyelocele/Spina bifida. Pediatric Urology Information. Retrieved July 19, 2012,
fromhttp://www.pediatricurologyinformation.com/meningomyelocele/topic.html
Myelomeningocele. (2011, March 15). National Library of Medicine - National Institutes of Health. Retrieved July 19, 2012,
fromhttp://www.nlm.nih.gov/medlineplus/ency/article/001558.htm

Myelomeningocele
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Myelomeningocele is a birth defect in which the backbone and spinal canal do not close before birth.
The condition is a type of spina bifida.

Causes
Normally, during the first month of a pregnancy, the two sides of the spine (or backbone) join together to cover the spinal cord, spinal nerves and
meninges (the tissues covering the spinal cord). Spina bifida refers to any birth defect involving incomplete closure of the spine.
Myelomeningocele is a neural tube defect in which the bones of the spine do not completely form, resulting in an incomplete spinal canal. This
causes the spinal cord and meninges (the tissues covering the spinal cord) to protrude from (stick out of) the child's back.
Myelomeningocele may affect as many as 1 out of every 4000 infants.
The rest of spina bifida cases are most commonly:

Spina bifida occulta, a condition in which the bones of the spine do not close but the spinal cord and meninges remain in place and skin
usually covers the defect.

Meningoceles, a condition where the tissue covering the spinal cord protrudes from the spinal defect, but the spinal cord remains in place.

Other congenital disorders or birth defects may also be present in a child with myelomeningocele. Hydrocephalus may affect as many as 90% of
children with myelomeningocele. Other disorders of the spinal cord or musculoskeletal system may be seen, including syringomyelia and hip
dislocation.
The cause of myelomeningocele is unknown. However, low levels of folic acid in a woman's body before and during early pregnancy are thought to
play a part in this type of birth defect. The vitamin folic acid (or folate) is important for brain and spinal cord development.
If a child is born with myelomeningocele, future children in that family have a higher risk than the general population. However, in many cases, there
is no family connection.
Some theorize that a virus may play a role, since there is a higher rate of this condition in children born in the early winter months. Research also
indicates possible environmental factors such as radiation.

Symptoms
A newborn may have a sac sticking out of the mid to lower back.
Symptoms include:

Loss of bladder or bowel control

Partial or complete lack of sensation

Partial or complete paralysis of the legs

Weakness of the hips, legs, or feet of a newborn

Other signs and/or symptoms may include:

Abnormal feet or legs, such as clubfoot

Build up of fluid inside the skull (hydrocephalus)

Exams and Tests


Prenatal screening can help diagnose this condition. During the second trimester, pregnant women can have a blood test called the quadruple
screen. This test screens for myelomeningocele, Down syndrome, and other congenital diseases in the baby. Most women carrying a baby with
spina bifida will have a higher-than-normal level of a protein called maternal alpha fetoprotein (AFP).
If the quadruple screen test is positive, further testing is needed to confirm the diagnosis.
Such tests may include:

Pregnancy ultrasound

Amniocentesis

Myelomeningocele can be seen after the child is born. A neurologic examination may show that the child has loss of nerve-related functions below
the defect. For example, watching how the infant responds to pinpricks at various locations may reveal where the baby can feel the sensations.
Tests done on the baby after birth may include x-rays, ultrasound, CT, or MRI of the spinal area.

Treatment

Genetic counseling may be recommended. In some cases where a severe defect is detected early in the pregnancy, abortion may be considered.
However, intrauterine surgery to close the defect (before the baby is born) is offered in some centers and appears to reduce the risk of some later
complications.
After your baby is born, surgery to repair the defect is usually recommended within the first few days of life. Before surgery, the infant must be
handled carefully to reduce damage to the exposed spinal cord. This may include special care and positioning, protective devices, and changes in
the methods of handling, feeding, and bathing.
Children who also have hydrocephalus may need a ventriculo-peritoneal shunt placed. This will help drain the extra fluid from the ventricles (in the
brain) to the peritoneal cavity (in the abdomen).
Antibiotics may be used to treat or prevent infections such as meningitis or urinary tract infections.
Most children will require lifelong treatment for problems that result from damage to the spinal cord and spinal nerves.
This includes:

Bladder and bowel problems: Gentle downward pressure over the bladder may help drain the bladder. Drainage tubes, called catheters,
may be needed as well. Bowel training programs and a high fiber diet may improve bowel function.

Muscle and joint problems: Orthopedic or physical therapy may be needed to treat musculoskeletal symptoms. Braces may be needed.
Many patients with myelomeningocele primarily use a wheelchair.

Follow-up examinations generally continue throughout the child's life. These are done to check the child's developmental progress and to treat any
intellectual, neurological, or physical problems.
Visiting nurses, social services, support groups, and local agencies can provide emotional support and assist with the care of a child with a
myelomeningocele who has significant problems or limitations.

Support Groups

See: Spina bifida resources

Outlook (Prognosis)
A myelomeningocele can usually be surgically corrected, but the affected nerves may still not function normally. (The higher the location of the
defect on the babys back, the more nerves will be affected.)
With early treatment, length of life is not severely affected. Kidney problems due to poor drainage of urine are the most common cause of death.
Most children with myelomeningocele will have normal intelligence. However, because of the risk of hydrocephalus and meningitis, more of these
children will have learning problems and seizure disorders.
New problems within the spinal cord can develop later in life, especially after the child begins growing rapidly during puberty. This can lead to more
loss of function as well as orthopedic problems such as scoliosis, foot or ankle deformities, dislocated hips, and joint tightness or contractures.
Many patients with myelomeningocele primarily use a wheelchair.

Possible Complications
Complications of spina bifida may include:

Traumatic birth and difficult delivery of the baby

Frequent urinary tract infections

Fluid build up on the brain (hydrocephalus)

Loss of bowel or bladder control

Low blood oxygen level in the baby

Brain infection (meningitis)

Permanent weakness or paralysis of legs

This list may not be all-inclusive.

When to Contact a Medical Professional


Call your health care provider if:

A sac sticks out of the spine of a newborn infant

The child is late in walking or crawling

Symptoms of hydrocephalus develop, including bulging soft spot, irritability, extreme sleepiness, and feeding difficulties

Symptoms of meningitis develop, including fever, stiff neck, irritability, and a high-pitched cry

Prevention
Folic acid supplements may help reduce the risk of neural tube defects such as myelomeningocele. It is recommended that any woman considering
becoming pregnant take 0.4 mg of folic acid a day. Pregnant women need 1 mg per day.
It is important to remember that folic acid deficiencies must be corrected before becoming pregnant, because the defects develop very early.
Prospective mothers may be screened to determine the amount of folic acid in their blood.

Alternative Names
Spina bifida; Cleft spine; Neural tube defect (NTD)

References
Kinsman SL, Johnston MV. Congenital anomalies of the central nervous system. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF,
eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, PA: Saunders Elsevier; 2011:chap 585.
Adzick NS et al. A randomized trial of prenatal versus postnatal repair of myelomeningocele. N Engl J Med. Mar 2011; 364(11):993-1004.

Update Date: 10/29/2013


Updated by: Kimberly G Lee, MD, MSc, IBCLC, Associate Professor of Pediatrics, Division of Neonatology, Medical University of South Carolina,
Charleston, SC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M.
Editorial team.

http://www.seattlechildrens.org/medical-conditions/chromosomal-geneticconditions/myelomeningocele/Chromosomal and Genetic Conditions

1. Overview
2. Symptoms & Diagnosis
3. Treatments
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What Is a Myelomeningocele?

A view of a myelomeningocele or spina bifida, a formerly common birth defect


A myelomeningocele (pronounced my-e-lo-MENING-o-seal) is a defect of the backbone (spine) and spinal cord. Before
birth, the baby's backbone, spinal cord and the structure they float in (spinal canal) do not form or close normally.
A myelomeningocele is the most serious form of spina bifida . In babies with a myelomeningocele, the bones of the spine
(vertebrae) don't form properly. This lets a small sac extend through an opening in the spine. The sac is covered with a
membrane. It holdscerebrospinal fluid (CSF) and tissues that protect the spinal cord ( meninges ). The sac may also contain
portions of the spinal cord and nerves. The sac itself may be opened up either before birth or during the birth.
A myelomeningocele can occur anywhere along the spinal cord. It is most common in the lower back (lumbar and sacral
areas). Babies lose function below the level of the problem. So, the higher the myelomeningocele is on the baby's back, the
more loss of function occurs.

Myelomeningocele in Children
Myelomeningoceles are present when a baby is born (congenital). About one to five babies in every 1,000 born in the United
States have a myelomingocele. The condition develops during the third week of a woman's pregnancy.
Doctors don't know exactly what causes myelomeningoceles. But there probably is a genetic component. If a woman has
one child with a myelomeningocele, there is a 3% to 5% chance that other children she has will also have the condition.
While we don't know the exact cause of myelomeningoceles, doctors do know what can help prevent them. Early in
pregnancy, it is very important for women to get enough folic acid in their diets. This vitamin helps the baby's neural tube
develop properly. The neural tube develops into the baby's brain and spinal cord.

Myelomeningocele at Seattle Children's


Neurosurgeons at Seattle Children's treat many children with myelomeningoceles. These children often have other complex
problems. In our multidisciplinary clinic, our neurosurgeons work closely with experts from other medical fields to make sure
your child gets the care they need as they grow.
Doctors in our community usually find myelomeningoceles during exams before the baby is born. They refer about 10 to 20
babies with myelomeningocele to Seattle Children's each year. The babies usually are transferred from the hospital where
they are born to Seattle Children's shortly after their birth. Our neurosurgeons are on hand to close the hole in the baby's
back, usually within 24 to 48 hours of birth. Symptoms of Myelomeningocele

A baby with a myelomeningocele has a sac holding parts of the spinal cord area sticking though the back. This can cause
symptoms that include:

Problems with physical movement

Loss of sensation; for example, the baby can't sense hot or cold

Loss of bowel and bladder control

Twisted or abnormal legs and feet, for example, clubfoot

Too much cerebrospinal fluid in the head (hydrocephalus)

Problems with formation of the brain (Chiari 2 malformation)

Myelomeningocele Diagnosis
Your community doctor may find the condition before your baby is born. A blood test for pregnant women called the
quadruple screen may show you have more of a protein called maternal alpha fetoprotein (AFP) in your blood than normal.
This is a sign that a developing baby may have spina bifida.
If the blood test shows high levels of AFP, you may have tests to make sure of the diagnosis. These include:

Ultrasound

Amniocentesis
Doctors can also find a myelomeningocele after the baby is born. Your baby may have imaging tests that let doctors see the
spine. They include:

X-rays

Ultrasound

CT (computed tomography) scan

MRI (magnetic resonance imaging)

1. Overview
2. Symptoms & Diagnosis
3. Treatments

As children born with a myelomeningocele grow, they most likely will need treatment such as medicines
and physical therapy. Some may need aids like braces, crutches or wheelchairs. Soon after birth, though,
treatment for your baby is surgery.
Surgery for Myelomeningocele

The child is in position for repair of his spina bifida.


Very soon after your baby is born, they will need surgery to fix the defect. Because part of your baby's spinal
cord area is exposed, your baby is at risk of getting an infection or having more damage to the spinal cord.
To lessen the risk, our neurosurgeons will operate within your baby's first 24 to 48 hours of life.
The goal of the surgery is to prevent infection and damage to your baby's spinal cord. The surgery does not
help your baby develop function that they were not born with.
First, the neurosurgeon closes up the covering around the spinal cord (dura mater) so it is watertight. Then
the neurosurgeon closes the muscles around the spinal cord. Finally, they close the skin over the open area.

Closing the spinal cord defect in spina bifida.


Some myelomeningoceles require the help of plastic surgeons . First, the plastic surgeon creates a skin graft
flap. Usually, they take skin for the graft from the baby's back or bottom. They use the skin graft to close up
the area of the myelomeningocele.
Many babies with a myelomeningocele also have too much cerebrospinal fluid in their heads
(hydrocephalus ). If your baby has severe hydrocephalus at birth, they may need surgery for a temporary
drainage system in the first few days after birth. If a temporary system is used first, a permanent shunt will
be placed when your baby is stable.
If your baby doesn't have hydrocephalus at birth, doctors wait to see if it develops later. If so, neurosurgeons
put in a shunt at that time.
Not all babies with a myelomeningocele need a shunt. Most babies who need a shunt get one within 4 to 8
weeks of their birth.

1. Overview
2. Symptoms & Diagnosis

Most children with a myelomeningocele develop hydrocephalus , or too much cerebrospinal fluid in parts of the brain.
Neurosurgeons at Seattle Children's have a great deal of experience putting in shunts , a common treatment for
hydrocephalus. We also have a lot of experience treating children with the related problems of spinal cord tethering , Chiari
malformation and syringomyelia.

1. Overview
2. Symptoms & Diagnosis
3. Treatments

What Is Meningomyelocele
in Children?
Meningomyelocele is a type of spina bifida, a
kind of birth defect in which the spinal canal
and the backbone dont close before birth. This
type of birth defect is also called a neural tube
defect. The spinal cord and the meninges (the
tissue that covers the spinal cord) may actually
protrude through the childs back. In some
cases skin covers the spinal cord and meninges,
in some cases it sticks through the skin.
Spina bifida most commonly occurs in three
forms: spina bifida occulta, meningoceles, and
meningomyelocele. Of these three,
meningomyelocele is the most common.
According to the National Institutes of Health,
this condition occurs in about one out of every
800 babies. Meningomyelocele is sometimes
called myelomeningocele (NIH).
Part 2 of 6: Causes

What Causes
Meningomyelocele?
Doctors do not know exactly why this condition
occurs. It is thought that a lack of folic acid
before and during early pregnancy impairs the
development of the spinal cord.
The condition may also be partly genetic.
Having one child with this disease makes it
more likely that you will have another affected
child. According to the University of Connecticut
Health Center, a woman with one affected child
has a one in 50 chance of having another baby
with the condition. Compare this to the one in
800 chance for the general population. The
University of Connecticut Health Center further
reports that a woman with two affected babies
has a one in 25 chance of her third child also
having the condition (UCHC). In many cases,
however, there is no family connection.
Part 3 of 6: Symptoms

What Are the Symptoms of


Meningomyelocele?

A baby with meningomyelocele is born with the


spinal cord exposed. The baby may have a sac
on his or her mid to lower back.
The exact symptoms and their severity depend
on your childs particular case. Unfortunately,
this tends to be a severe type of spina bifida,
with the spinal cord typically being abnormal.
The affected body parts are those below the
location of the problem, specifically the legs,
bladder, and bowels.
In some children, these body parts are only
mildly affected. Others might have complete
loss of control of their bladder and/or bowel.
The legs may be partially or completely
paralyzed or lack sensation.
Other possible symptoms include:

orthopedic deformities
hydrocephalus (buildup of fluid in the skull
that leads to swelling of the brain)

Chiari II malformation (structural defects in


the part of the brain that controls balance)
Because the spinal cord is exposed, a child with
meningomyelocele is at risk of developing
bacterial meningitis.
Part 4 of 6: Diagnosis

How Is Meningomyelocele
Diagnosed?
This condition is usually diagnosed during the
second trimester of pregnancy when women
can have a blood test called the quadruple
screen. The test can screen for several
conditions including meningomyelocele, Down
syndrome and other congenital diseases of the
baby. Most women who carry a baby with neural
tube defects have elevated levels of maternal
alpha fetoprotein (AFP).
If the screen test is positive, further testing
including a pregnancy ultrasound and/or
amniocentesis can confirm the diagnosis.
Part 5 of 6: Treatments

How Is Meningomyelocele
Treated?
This condition is typically diagnosed during
early pregnancy, and some women opt to
terminate the pregnancy.
If you choose not to do so, your baby will
generally need surgery after birth. Prompt
surgery can help protect your child from
infections such as meningitis. Your doctor might

prescribe antibiotics as an additional measure


in preventing these infections.
If your child has hydrocephalus, sometimes
called water on the brain, he or she may need
to have a shunt inserted. This shunt can drain
the extra liquid from around the brain, reducing
pressure on the brain into your childs
abdomen.
Your child may not develop bladder control. If
this is the case, he or she might need a
catheter to help drain the bladder.
Because of the effect this condition can have on
your childs lower limbs, he or she might need
to wear braces, an orthopedic device that
support the legs and/or main part of the body.
In most cases, your childs treatment will be
lifelong. He or she will need to be seen regularly
to assess any developing problems. He or she
may also need to use a wheelchair for life.
Part 6 of 6: Prevention

How Can I Prevent


Meningomyelocele?
Because spina bifida and other neural tube
defects are believed to be related to lo

http://www.healthline.com/health/myelomening
ocele#Prevention6
w levels of folic acid, its important to take folic
acid supplements during pregnancy. Folic acid is
a B vitamin that is important in the
development of red blood cells and is important
for good health in general, especially during
pregnancy. Doctors advise taking a folic acid
supplement before you become pregnant.
Spina bifida is a treatable spinal cord malformation that occurs in varying degrees of severity. Classified as a
defect of the neural tube (ie, the embryonic structure that develops into the spinal cord and brain), it was
recognized as long as 4000 years ago. The term myelodysplasia has been used as a synonym for spina bifida.
(See Pathophysiology and Etiology.)
Neural tube defects have a range of presentations, from stillbirth to incidental radiographic findings of spina
bifida occulta. Myelomeningocele, a form of spina bifida, is visible at birth (see the images below). Patients
with myelomeningocele present with a spectrum of impairments, but the primary functional deficits are
lower limb paralysis and sensory loss, bladder and bowel dysfunction, and cognitive dysfunction. (See
Clinical Presentation.)[1]

The lumbar region of a newborn baby with myelomeningocele. The


skin is intact, and the placode-containing remnants of nervous tissue can be observed in the

center of the lesion, which is filled with cerebrospinal fluid.


Myelomeningocele in a newborn.

Blood tests, amniocentesis, or both can be used to screen for neural tube defects. These typically are used in
combination with fetal ultrasonography. (See Workup.)

Treatment advances have allowed an increasing number of patients with neural tube defects to participate
and be productive in mainstream society. However, medical, surgical, and rehabilitation issues arise in the
patient with myelomeningocele, from birth through adulthood.[2] (See Treatment and Medication.)
The need for a team approach is recognized in contemporary treatment of spina bifida. Bringing together a
number of medical and surgical specialists can help to spare parents the strain and exhaustion of
coordinating with multiple doctors and can ensure the availability of necessary services. The orthopedic
surgeon assumes a significant role in coordinating the many treatment components that together allow
patients to gain maximum function and, particularly, independence. (See Treatment.)
Participation in the care of patients with major, chronic physical disabilities requires commitment,
coordination, and access to extensive clinical resources. Improved survival rates in patients with spina bifida
can be expected with treatment; quality of life is at least partially dependent on the speed, efficiency, and
comprehensiveness of that treatment from birth. (See Prognosis.)

Classification
Spina bifida is a variable defect in which the vertebral arch of the spinal column is either incompletely
formed or absent. The term bifida is from the Latin bifidus, or "left in 2 parts." Although the condition has
also been referred to as myelodysplasia and myelomeningocele, spina bifida generally has been accepted as
the preferred term, specifically by the American Academy of Orthopaedic Surgeons. Rachischisis posterior,
the equivalent Greek term, is derived from rachis, meaning spine, and schisis, meaning division
(spondyloschisis in Latin).
Spina bifida cystica
Spina bifida cystica can occur anywhere along the spinal axis but most commonly is found in the lumbar
region. In this condition, the spine is bifid and a cyst forms. A meningocele, a cystic swelling of the dura and
arachnoid, protrudes through the spina bifida defect in the vertebral arch. A person with a meningocele may
have no neurologic sequelae.
Spina bifida cystica causes a problem when cord tissue extends into the meningocele, in which case the cyst
is called a myelomeningocele. According to Menelaus, the myelomeningocele form of spina bifida cystica is
the most significant and common type of spina bifida, accounting for 94% of cases. (Spina bifida occulta is
not included in this figure.)
A child born with myelomeningocele requires specialty care and transfer to a center where neonatal surgery
and closure can be performed. Surgery involves freeing lateral muscles and skin for coverage and attempting
to form a closure of the neural elements with minimal scarring, because the late complication of a tethered
cord has frequent and severe consequences.
Another form of spina bifida cystica, the most severe type in fact, is the myelocele, or myeloschisis, variety,
in which the open neural plate is covered secondarily by epithelium and the neural plate has spread out onto
the surface.
Spina bifida occulta

The term spina bifida does not actually refer to spina bifida occulta, which may exist in a very large number
of healthy adults. Some contend that it could be found in up to one third of healthy adults if imaging studies
were used to analyze the posterior vertebral arch.
Syringomeningocele
Syringomeningocele is another form of spina bifida. The Greek word syrinx, meaning tube or plate, is
combined with meninx (membrane) and kele (tumor). The term thus describes a hollow center, with the
spinal fluid connecting with the central canal of the cord enclosed by a membrane with very little cord
substance.
Syringomyelocele and syringomyelia
Syringomyelocele is a type of spina bifida in which protrusion of the membranes and spinal cord lead to
increased fluid in the central canal, attenuating the cord tissue against a thin-walled sac. Syringomyelia, or
hydrosyringomyelia, is the presence of cavities in the spinal cord, which may result from the breakdown of
gliomatous new formations.

Pathophysiology
Neural tube defects are the result of a teratogenic process that causes failed closure and abnormal
differentiation of the embryonic neural tube. Neural tube defects occur between the 17th and 30th day of
gestation, at a time when the mother may not be aware that she is pregnant and the fetus is estimated to be
about the size of a grain of rice.
The most common neural tube defects are anencephaly and myelomeningocele. Anencephaly results from
failed closure of the rostral end of the neural tube, resulting in incomplete formation of the brain and skull.

Myelomeningocele
Spina bifida cystica causes a problem when the meningeal cyst (meningocele) includes cord tissue extending
into the cyst (in which case, it is a myelomeningocele). The condition is also of particular concern when the
neural tube is completely open and the ependymal layer is exposed as a myelocele (or myeloschisis). A
meningocele alone may cause no neurologic problems if the cord is confined to the vertebral canal.
Myelomeningocele results from failed closure of the caudal end of the neural tube, resulting in an open
lesion or sac that contains dysplastic spinal cord, nerve roots, meninges, vertebral bodies, and skin . The
anatomic level of the myelomeningocele sac roughly correlates with the patient's neurologic, motor, and
sensory deficits.

Myelomeningocele in a newborn.

Myelomeningocele is associated with abnormal development of the cranial neural tube, which results in
several characteristic CNS anomalies. The Chiari type II malformation is characterized by cerebellar
hypoplasia and varying degrees of caudal displacement of the lower brainstem into the upper cervical canal
through the foramen magnum. This deformity impedes the flow and absorption of cerebrospinal fluid (CSF)
and causes hydrocephalus, which occurs in more than 90% of infants with myelomeningocele. (See the
image below.)

Coronal, T1-weighted magnetic resonance imaging (MRI) scans of


the brain show a Chiari II malformation. Note the stretching of the brainstem, aqueduct, and
fourth ventricle.

Cerebral cortex dysplasia, including heterotopias, polymicrogyria, abnormal lamination, fused thalami, and
corpus callosum abnormalities, also occurs frequently. In addition, mesodermal structures surrounding the
neural tube, such as the vertebra and ribs, may be malformed.
Unprotected neural elements are at severe risk during delivery. The sequelae of the neural tube defect follow
directly from this lack of protection, occurring mechanically or resulting from desiccation, scarring with
closure, and/or a lack of vascular support or from other insults to the delicate neural elements.
The neurologic damage generally results in a neurogenic bowel and bladder, which leads to incontinence.
With a lack of neural input, a contracted bladder causes hydronephrosis, along with infections and renal
failure, which may be the prime determinant of longevity in patients with spina bifida.
As a pattern, neurologic innervation is not symmetrical between lower-limb flexors and extensors; the
corresponding levels are lower (caudal) for the extensors than for the flexors. Generally, muscular imbalance
is present in patients with myelomeningocele, which results in joint contractures and developmental
problems, such as hip dislocation and spinal deformities.
Normal intelligence can be expected with aggressive shunting for hydrocephalus, although seizure activity
secondary to the neural tube defect may be noted. In addition, subtle defects in coordination may be
associated with the cerebellar deficiency from the Arnold-Chiari malformation, which is a malformation of
the cerebellum, with elongation of the cerebellar tonsils and with the cerebellum drawn into the fourth
ventricle. The condition also is characterized by smallness of the medulla and pons and by internal
hydrocephalus. In fact, all patients with spina bifida cystica (failure to close caudally) have some form of
Arnold-Chiari malformation (failure to close cranially).
Myelomeningocele often occurs along with multiple system congenital anomalies. Commonly associated
anomalies are facial clefts, heart malformations, and genitourinary tract anomalies. Urinary tract anomalies,
such as solitary kidney or malformed ureters, may contribute to increased morbidity in the presence of
neurogenic bladder dysfunction.
Embryology

During prenatal development, neuroectoderm thickens into the neural plate, which then folds into a neural
groove by the time somites appear. The groove deepens to become the neural tube, and dorsal fusion begins
centrally, extending cephalad and caudally, with the cephalad pole fusing at the 25th day. The ventricle
becomes permeable at the 6th to 8th week of gestation but this apparently does not proceed normally in
patients with myelomeningocele.
Some studies suggest that an increased amount of neural crest material in the defect prevents neural tube
closure. Another hypothesis is that an already closed tube ruptures; increased permeability of the rhombic
groove leads to greater CSF secretion and increased luminal pressure, with the tube then expanding and
essentially splitting the neural element at its weakest areas (ie, the cephalic and caudal ends).
Research by McLone and Knepper supports the latter hypothesis and details the implications of this defect
on the entire CNS.[4]
Obesity
Obesity is prevalent in children with myelomeningocele, especially those with high-lumbar and thoraciclevel lesions, because of reduced capacity for caloric expenditure. The decreased muscle mass of the lower
body musculature results in a lower basal metabolic rate. In addition, activity levels generally are lower than
in unaffected children as a direct result of lesion-related mobility deficits and as an indirect result of
decreased opportunities for disabled children to participate in physical play.
Obesity can exert negative impact on self-image and further perpetuate a cycle of inactivity and overeating.
Excessive weight impedes maximal independence and ambulation.
Bone involvement
Bone mineral density is decreased in patients with myelomeningocele.[5] Markers of bone reabsorption have
been found more frequently in limited ambulators and nonambulators than in children who ambulate
regularly.
Children with myelomeningocele are at higher risk of lower extremity fractures. Reduced muscle activity in
the paralyzed limb and decreased weight-bearing forces result in decreased bone mass. In addition, many
fractures occur after orthopedic interventions, especially after procedures associated with cast
immobilization. Fractures in myelomeningocele tend to heal quickly, and excessive callus formation often is
seen.
Urinary tract dysfunction
The main determinant of upper urinary tract deterioration is the intravesical pressure in storage and voiding
situations. A high incidence of vesicoureteral reflux and ureteral dilation has been found in patients with
myelomeningocele whose leak-point pressures are greater than 40 cm water.
High pressures may result from increased outlet resistance or decreased bladder wall compliance. Increased
outlet resistance may be caused by sphincter dyssynergia or fibrosis of a denervated sphincter. Decreased
bladder wall compliance is associated with areflexia of the detrusor. Any of these urologic dysfunctions can
occur in myelomeningocele, but manifestations may vary over time because of the changing neurologic
status in some of these patients.
Abnormalities in sexual development and function

Females with myelomeningocele go through puberty 1-2 years earlier than their unaffected peers. Sexual
precocity is associated with hydrocephalus and obesity. Abnormal genital sensation is typical, but some
female patients with myelomeningocele are able to achieve orgasm. Fertility is not affected in females with
myelomeningocele; however, pregnancy carries increased risk of urinary tract infection, back pain, and
perineal prolapse postpartum.
Young men with myelomeningocele have abnormal genital sensation, decreased ability to achieve and
sustain erections, and decreased fertility. However, the potential for ejaculation and reproduction must be
assessed for each individual patient. Implantable penile prosthetic devices, vacuum tumescence devices, and
electrical stimulation have been used for some patients unable to achieve erections.
Latex sensitization
Latex sensitization is more common in patients with myelomeningocele, likely due to a genetic
predisposition and a higher degree of exposure. The number of surgical interventions (particularly
orthopedic and urologic procedures), the presence of a ventriculoperitoneal shunt, and total serum
immunoglobulin E (IgE) levels have been associated with latex allergy in children with myelomeningocele.
Establishment of a latex-free environment for surgery, however, has resulted in a decrease in sensitization of
these patients to latex.

Etiology
The etiology in most cases of myelomeningocele is multifactorial, involving genetic, racial, and
environmental factors, in which nutrition, particularly folic acid intake, is key. Cytoplasmic factors,
polygenic inheritance, chromosomal aberrations, and environmental influences (eg, teratogens) have all been
considered as possible causes. A small number of cases are linked to specific etiologic factors.
Most infants born with myelomeningocele are born to mothers with no previously affected children.
However, other offspring in a family with 1 affected child are at greater risk for neural tube defect than are
children without affected siblings. The risk is 1 in 20-30 for subsequent pregnancies, and if 2 children are
affected, the risk becomes 1 in 2. An increase in the risk of myelomeningocele has also been reported for
second- and third-degree relatives of affected individuals.
Up to 10% of fetuses with a neural tube defect detected in early gestation have an associated chromosome
abnormality. Associated chromosome abnormalities include trisomies 13 and 18, triploidy, and single-gene
mutations.
In women with pregestational diabetes, the risk of having a child with a CNS malformation, including
myelomeningocele, is 2-10 fold higher than the risk in the general population. The mechanism underlying
this teratogenic effect is not well defined but is related to the degree of maternal metabolic control. The risk
in women who develop gestational diabetes is lower than the risk in women with pregestational diabetes, but
it might not be as low as in the general population.
Other risk factors for myelomeningocele include maternal obesity, hyperthermia (as a result of maternal
fever or febrile illness or the use of saunas, hot tubs, or tanning beds), and maternal diarrhea. Identified risk
factors also include intrauterine exposure to antiepileptic drugs, particularly valproate and carbamazepine,
and to drugs used to induce ovulation.[6, 7, 8]

The risk of having a child with myelomeningocele has also possibly been associated with maternal
exposures to fumonisins, electromagnetic fields, hazardous waste sites, disinfection by-products found in
drinking water, and pesticides.

Folic acid deficiency


Research in the 1980s showed correction of folic acid deficiency as an effective means of primary and
recurrent prevention.[9] At least half of cases of neural tube defects are related to a nutritional deficiency of
folic acid or increased requirement and, thus, are potentially preventable.
In September 1992, the US Public Health Service (USPHS) recommended intake of folic acid at a dosage of
0.4 mg (400 mcg) per day for all women anticipating pregnancy. (Currently, the US Centers for Disease
Control and Prevention [CDC] also recommends 400 mcg/day, while the US Preventive Services Task Force
recommends 400-800 mcg/day.) In January 1998, the mandatory fortification of enriched cereal grain
products with folic acid went into effect in the United States; this measure that was expected to increase the
daily intake of folic acid in women of reproductive age by approximately 100 mcg/day.
According to the CDC, the prevalence of spina bifida from October 1995 to December 1996 (before
mandatory fortification) was 2.62 per 10,000 live births, while the prevalence from October 1998 to
December 1999 was 2.02 per 10,000 live births, a 22.9% reduction. Later declines were smaller, however,
with the prevalence of spina bifida falling just 6.9% between the surveillance periods 1999-2000 and 20032005; for reasons that remain unclear, this included a significant decrease in prevalence within the black
population but not within the white and Hispanic populations.[9, 10]

Epidemiology
Occurrence in the United States
The incidence of spina bifida has been estimated at 1-2 cases per 1000 population, with certain populations
having a significantly greater incidence based on genetic predilection. Folate fortification of enriched grain
products has been mandatory in the United States since 1998; research indicates that folate can reduce the
incidence of neural tube defects by about 70% and can also decrease the severity of these defects when they
occur.[8, 11, 12, 13]
Neural tube defects are the second most common type of birth defect after congenital heart defects, and
myelomeningocele is the most common form of neural tube defect. In the United States, approximately 1500
infants are born with myelomeningocele each year.
Birth incidence of the disease was reported to be 4.4-4.6 cases per 10,000 live births from 1983-1990. Rates
varied by region, with the incidence being higher on the East Coast than on the West Coast and with the
highest rates occurring in Appalachia. The rate of myelomeningocele and other neural tube defects has
declined since the late 20th century. This is attributed to the widespread availability of prenatal diagnostic
services and to improved nutrition among pregnant women.

International occurrence
The average worldwide incidence of spina bifida is 1 case per 1000 births, but marked geographic variations
occur. Neural tube defects occur at frequencies (per 10,000 births) ranging from 0.9 in Canada and 0.7 in
central France to 7.7 in the United Arab Emirates and 11.7 in South America.
The highest rates of spina bifida are found in parts of the British Isles, mainly Ireland and Wales, where 3-4
cases of myelomeningocele per 1000 population have been reported, along with more than 6 cases of
anencephaly (both live births and stillbirths) per 1000 population. The reported overall incidence of
myelomeningocele in the British Isles is 2-3.5 cases per 1000 births.
In France, Norway, Hungary, Czechoslovakia, Yugoslavia, and Japan, a low prevalence is reported, being
just 0.1-0.6 cases per 1000 live births.
Low socioeconomic status is associated with higher risk of neural tube defects in many populations. Since
approximately 1940, epidemics of myelomeningocele have occurred in Boston, Mass; Rochester, NY;
Dublin, Ireland; The People's Republic of China; and Jamaica.[14]

Race-related demographics
According to the CDC, the prevalence of spina bifida in the United States is higher in the white and
Hispanic populations (2 and 1.96, respectively, per 10,000 live births) than in the black population (1.74 per
10,000 live births).[15, 16, 17, 10]

Sex-related demographics
Data from state and national surveillance systems from 1983-1990 found the birth prevalence rate of
myelomeningocele to be slightly higher in females than in males (1.2:1). A higher proportion of females than
males exhibit thoracic-level malformations.

Prognosis
Studies of children with prenatally diagnosed myelomeningocele suggest that less severe ventriculomegaly
and a lower anatomic level of lesion on prenatal ultrasonograms predict better developmental outcomes in
childhood. Aggressive treatment with closure in the neonatal period leads to survival in most cases of spina
bifida.

Cognitive function
As a group, patients with myelomeningocele have intelligence scores below the population average but
within the normal range. Cognitive dysfunction is most strongly correlated with the presence of
hydrocephalus, along with hydrocephalus-related illness parameters (ie, the necessity of shunting, number of
shunt revisions, shunt infections, and additional structural abnormalities of the CNS).[18]
Aggressive shunting of hydrocephalus can permit the retention of near-normal intelligence in the majority of
patients. Children who do not require shunt revisions are more likely to be employed, live independently,
and drive as adults.[19]

Cognitive function has also been related to the level of the lesion. Upper-level lesions have been associated
with a higher frequency of mental retardation and lower scores on measures of intelligence, academic skills,
and adaptive behavior.
Children with myelomeningocele tend to demonstrate generalized deficits in visual memory and
auditory/verbal memory. Verbal subtest scores usually exceed performance subtest scores, with visual-spatial
organizational deficits that may be explained in part by upper limb discoordination and/or memory deficits.
The term "cocktail personality" has been applied to a subgroup of patients with hydrocephalus who appear
to have advanced expressive language skills. The speech of these individuals typically is verbose, but it
tends to lack content and contains jargon and many clichs. This pattern often is associated with poor
comprehension skills and reflects significant cognitive impairments and functional deficits.
Approximately 75% of children with myelomeningocele have an IQ higher than 80. Among those whose
intelligence is normal, 60% are learning disabled, with the most common feature being a nonverbal learning
disability. Particular deficits are seen in mathematics, sequencing, visual perceptual skills, and problem
solving. Prevalence of attention problems has been estimated to be 30-40%.

Ambulation
The ability to ambulate depends on, and directly correlates with, the functional sensorimotor level. The
patients motor level is difficult to assess in the neonate, but the sensory level in infancy is easier to evaluate.
Children with sensory levels below L3 are more likely to ambulate as adults and are less likely to have
pressure sores or need daily care.[19, 20, 21, 22]
Studies have shown that approximately 50-60% of young adult patients ambulate household or community
distances, with about 20% of these patients using some orthotic or assistive device. The other 50% of
patients use wheelchairs as their primary form of mobility. Approximately 20% of these individuals
ambulate with orthotics and assistive devices as a form of therapeutic exercise.[23]
Several studies have shown that ambulation in patients with myelomeningocele is related to the strength of
certain key muscles, including the iliopsoas, gluteus medius, hamstrings, and/or quadriceps. Specifically, a
motor neurologic level of L5 or quadriceps strength graded as good (4 out of 5) in the first 3 years of life is
predictive of a good prognosis for community ambulation. Gluteus medius strength was the best predictor of
a need for gait aids and orthoses. In a 25-year follow-up study of young adults with myelomeningocele, no
patient with a lesion at L3 or above ambulated a majority of the time.[24]
Maximal ability to ambulate usually is achieved by the time the child reaches age 8-9 years. Studies have
shown that a majority of preadolescent patients, even those with higher-level lesions, are community
ambulators when they receive aggressive multidisciplinary interventions. After adolescence, however,
community ambulation decreases to approximately 50%.
The ability to ambulate tends to decline in the second decade of life because of increased body dimensions
and higher energy requirements. Lower-extremity muscle deterioration also may play a role. Functional
decline with aging in patients with myelomeningocele also can be exacerbated by obesity, decubitus ulcers,
and psychological issues.

Activities of daily living


Except for sphincter control, independence in activities of daily living (ADL) is likely for children born with
myelomeningocele without hydrocephalus. Similarly, for children born with myelomeningocele and
hydrocephalus, those with a level of lesion of L4/5 (quadriceps grade of good) or below are likely to be
independent for almost all ADL except sphincter control. Those with higher-level lesions are at significant
risk for dependence in ADL.

Continence
The data on continence from the literature is variable, which in part reflects inconsistencies in the definition
of social continence. Studies report 40-85% achievement of bladder continence and 50-85% achievement of
bowel continence. Approximately 25% of patients are continent of both bowel and bladder. The likelihood of
social continence improves when training is instituted before age 7 years. The psychosocial consequence of
bowel and bladder incontinence can have a dramatic impact on children with myelomeningocele, especially
in adolescence.

Employment, independence, and quality of life


Studies of adults with myelomeningocele have shown that about 20-30% secure gainful employment. In one
study, employment status was related to lesion level and motor independence. However, motor independence
was not found to be related to self-reported quality of life or range of life experiences.[25]
Several studies have shown a greater number of shunt revisions to be associated with reduced independence
and achievement in adulthood.[26] This suggests that close medical management in order to minimize episodes
of increased intracranial pressure may improve adult employment and quality of life.
Perceived family environment may explain different levels of participation of patients with
myelomeningocele in employment, community mobility, and social activity as an adult, even beyond what
can be explained by lesion level and intelligence. A positive correlation exists between perceived family
encouragement of independence and outcomes in young adults with myelomeningocele.

Complications
Neurologic complications
Neurologic complications in patients with myelomeningocele are related to a variety of CNS and spinal cord
pathologies. Approximately 25-35% or more of children with myelomeningocele are born with
hydrocephalus, and an additional 60-70% of patients with myelomeningocele develop hydrocephalus after
closure of the myelomeningocele lesion. Hydrocephalus can cause expansion of the ventricles and loss of
cerebral cortex and is associated with an increased risk of cognitive impairment.
Seizures occur in 10-30% of affected children and adolescents. These can be related to brain malformation,
or they may be a sign of shunt malfunction or infection.
The Chiari type II malformation is present anatomically in almost all patients with myelomeningocele and
can result in hindbrain and/or upper cervical spinal cord dysfunction. Clinical manifestations of the Chiari II
malformation are more common during infancy and, overall, are seen in 20-30% of affected children.
However, symptoms can develop at any age and can manifest acutely or chronically.

Urologic complications
Myelomeningocele is the most common cause of neurogenic bladder dysfunction in children. The nature of
the urinary tract dysfunction in myelomeningocele depends on the level and extent of the spinal cord lesion.
Disruption of the neural axis between the pons and the sacral spinal cord by the myelomeningocele may
cause uninhibited detrusor contractions or dyssynergia, a lack of coordination of the external bladder
sphincter that causes involuntary sphincter activity during detrusor contraction. Myelomeningocele in the
sacral area can produce a lower motor neuron lesion, resulting in detrusor areflexia.
These abnormalities may occur singly or in combination and typically result in incontinence and impaired
bladder emptying that can lead to vesicoureteral reflux and high voiding pressures.[27] If untreated, such
dysfunction can lead to potentially more serious complications, including frequent infections, upper urinary
tract deterioration, and, ultimately, renal failure.
Skin breakdown
Skin breakdown occurs in 85-95% of children with myelomeningocele before young adulthood, and
recurrent decubitus ulcers can lead to prolonged morbidity and functional disability. Healing can occur if the
precipitating mechanical factors are eliminated. Plastic surgical correction may be necessary in severe cases
and may involve orthopedic correction of underlying postural abnormalities.
The sites and causes of skin breakdown vary by age and lesion level. Skin breakdown on the lower limb
occurs in 30-50% of cases in all lesion-level groups.
The most common areas of breakdown in the thoracic-level group are the perineum and above the apex of
the kyphotic curve. Overall, tissue ischemia from pressure necrosis is the most common etiology.
Older children may have higher risk of skin breakdown, because of increased pressure of a larger body
habitus, asymmetrical weight-bearing from acquired musculoskeletal deformities, and lower limb vascular
insufficiency or venous stasis.
Frequent causes of skin breakdown that are more prevalent in younger children include casts or orthotic
devices, skin maceration from urine and stool soiling, friction, shear, and burns.
Ulcers from bracing are prominent in the lower extremities, in the pelvis, and, particularly, over the bony
prominences as a result of sitting. Carefully inspecting the skin on a routine basis is important because the
area may be subjected to pressure for a couple of hours. The skin subsequently may be reddened, and
although the patient may have no pain, the skin can develop significant full-thickness problems after only a
brief period of neglect.

Mortality
In general, survival and degree of neurologic impairment depend on the level of the spinal segment
involved, the severity of the lesion, and the extent of associated abnormalities.
The mortality rate for infants with myelomeningocele is increased over the general population risk in the
first year of the life. Mortality rates reported for untreated infants range from 90-100%, based on several
studies dating from the turn of the century through recent years. Most untreated infants die within the first

year of life. Death in the first 2 years of life for those untreated usually results from hydrocephalus or
intracranial infection. An infant aged 2 months with untreated myelomeningocele has only a 28% likelihood
of living 7 years.[28]
Survival rates for infants born with myelomeningocele have improved dramatically with the introduction of
antibiotics and developments in the neurosurgical treatment of hydrocephalus. Early death in treated and
untreated patients is associated with advanced hydrocephalus and multiple system congenital anomalies.
Renal compromise occurs because of problems related to neurogenic bladder. Despite advances in the
management of neurogenic bladder, renal failure is still the leading cause of death in patients with
myelomeningocele after the first year of life.
Longevity may depend on the careful use of clean intermittent catheterization and compliance with a bowel
and bladder regimen. Long-term survival into adulthood and advanced age is now common with aggressive
treatment and an interdisciplinary clinical approach. With proper urologic management, more than 95% of
children with myelomeningocele continue to have normal renal function.

Patient Education
Institute measures to avoid development of soft tissue contractures in the neonatal period. Physical and/or occupational therapists provide caregivers with
instruction in handling and positioning techniques. In the first several years of life, recommend incorporation of stretching and strengthening exercises into a
home program performed by the caregivers and later into play and physical education activities at school.
Instruct preschool and school-aged children with myelomeningocele in the use of adaptive equipment and alternative methods for self-care and performance
of ADL. To become independent by school age, young children with myelomeningocele need to become active participants in skin care, bowel and bladder
management, and donning and doffing of orthotics, in addition to traditional ADL tasks such as feeding and dressing.
Acquisition of ADL skills often is influenced by attitudes and expectations, so the multidisciplinary team members need to emphasize carryover of ADL skills in
the home and school environments by providing anticipatory guidance to parents and caregivers.
Strategies for prevention of skin breakdown first are directed at parents and caregivers, but children with myelomeningocele should be encouraged from an
early age to take responsibility for their own skin care. Parents must first be made aware of the areas of abnormal sensation. Necessary precautions include
daily skin inspections, pressure relief, avoidance of exposure to extreme temperatures and harmful surfaces, and frequent monitoring of shoes and orthotics.
Self-catheterization techniques should be introduced during the later preschool years to promote normal progress toward independence. Mastery of selfcatheterization in patients with myelomeningocele usually is achieved by age 6-8 years, depending on the severity of cognitive and motor involvement.
A functional environment should be created for the patient at home and school to facilitate efficient independent functioning.
A study by Vaccha and Adams indicated that family environment can influence language skills in children with myelomeningocele. [29] The investigators studied
75 children with myelomeningocele, aged 7-16 years, along with 35 age-matched controls, and found a positive association between language performance
in children with myelomeningocele and a focus on intellectually and culturally enhancing activities by their families.

Sex education
Sex education and counseling should begin early to help adolescents with myelomeningocele make a positive adjustment to adolescence and to help them
avoid misinformation. Sex education, including accurate information about safe sex, should be included in the routine health-care maintenance of the older
child and adolescent with myelomeningocele.
Studies of young people with myelomeningocele have shown that, although many are involved in intimate relationships, most had inadequate knowledge
about sexuality and reproductive health issues related to their condition.
For patient education information, see the Brain and Nervous System Center, as well as Spina Bifida and Bladder Control Problems.

History
Myelomeningocele is diagnosed at birth or in utero. At birth, a midline defect in the posterior elements of
the vertebrae is noted with protrusion of the meninges and neural elements through an external dural sac.

Although spina bifida occulta is common and almost always without consequence, some developmental
abnormalities may occursuch as a spinal cord lipoma or a fibrous cordthat can cause subtle or rare
neurologic signs.
A fibrous cord may extend from an interdural component of one of these developmental abnormalities to the
skin, producing a dimple, an area of pigmentation, or a hairy patch at the base of the spine; such symptoms
can be noted on physical examination.
Patients with a fibrous cord may have problems with micturition, or they may have subtle neurologic signs,
such as a foot deformity (most commonly, a cavus foot). A prompt and thorough investigation is mandatory
for any progressive neurologic signs. When a lipoma is present, there may be a lipomeningocele, a
lipomyelomeningocele, or a lipomyelocele. These may be associated with areas of fluid in the cord, which
may be a syringomyelia.
In general, infants with spina bifida cystica present with the following:

Lethargy
Poor feeding
Irritability
Stridor
Ocular motor incoordination
Development delay

Older children may present with the following:

Cognitive or behavioral changes


Decreased strength
Increased spasticity
Changes in bowel or bladder function
Lower cranial nerve dysfunction
Back pain
Worsening spinal or lower extremity orthopedic deformities

Some patients, however, may present with only papilledema. In any patient with myelomeningocele who
presents with deterioration in neurologic, orthopedic, or urologic function, uncontrolled hydrocephalus
should be excluded as a cause before any other treatment is pursued.

Chiari type II malformation


The Chiari type II malformation may cause acute or subacute signs and symptoms of lower brainstem and/or
upper cervical spinal cord compression, including the following:

Laryngeal and pharyngeal paralysis


Apnea
Swallowing difficulty
Respiratory stridor
Nystagmus
Upper extremity weakness

These problems rarely are severe. A varying degree of interference with cerebellar function seems to occur,
particularly with balance and coordination, which has a significant influence on ambulation, the results of
physical therapy, and overall orthopedic care.

Coordination and cognitive function


Failure to control a seizure disorder, recurrence of hydrocephalus, or even low pressure hydrocephalus can
cause subtle coordination defects and interruption of some cognitive functions.

Tethered spinal cord


The tethered spinal cord may be signaled by foot deformities that previously braced easily, new onset of hip
dislocation, or worsening of a spinal deformity, particularly scoliosis. Progressive neurologic defects in
growing children may suggest a lack of extensibility of the spine or indicate that the spine is tethered and
low-lying in the lumbar canal, with the potential for progressive, irreversible neurologic damage that
requires surgical release.

Physical Examination
The most obvious finding on physical examination is some degree of motor and sensory loss. [1] Neurologic impairment is classified by traditional
neurosegmental levels based on the clinically determined strength of specific muscle groups. The functional motor level does not always correspond to the
anatomic level of the lesion.
In addition, it is important to realize that the motor paresis may be asymmetrical, that it may not correspond to the sensory level, and that it may result from a
combination of upper and lower motor neuron lesions. Serial measurements and accurate documentation of the functional level of the lesion allow for early
detection of progressive neurologic deterioration related to a variety of associated CNS problems.
In addition to determining the functional neurosegmental level, it is important to distinguish the type of paralysis, either spastic or flaccid. Most patients with
myelomeningocele have a flaccid paraparesis below the spinal cord lesion.
An estimated 10-25% of patients have been reported to have a spastic paraparesis. This presentation is presumably related to an intact, but isolated,
segment of cord distal to the lesion. Spastic paraparesis has been associated with a poorer prognosis for walking and higher rates of orthopedic procedures.

Neurosegmental levels and musculoskeletal complications


For the sake of general functional prognosis and anticipation of specific musculoskeletal complications, myelomeningocele patients frequently are classified
as belonging to one of the following groups, based on the neurosegmental level of the lesion:

Thoracic
High lumbar
Low lumbar
Sacral
Thoracic
In the thoracic group, innervation of the upper limb and neck musculature and variable function of trunk musculature are present, with no volitional lower limb
movements. Patients with thoracic malformations tend to have more involvement of the CNS and associated cognitive deficits.
High lumbar
In the high-lumbar group, variable hip flexor and hip adductor strength is characteristic. Absence of hip extension, hip abduction, and all knee and ankle
movements is noted.
Low lumbar
In the low-lumbar group, hip flexor, adductor, medial hamstring, and quadriceps strength is present. The strength of the lateral hamstrings, hip abductors, and
ankle dorsiflexors is variable; the strength of the ankle plantar flexors is absent.
Sacral
In the sacral-level group, strength of all hip and knee groups is present. Ankle plantar flexor strength is variable.

Complications of hydrocephalus
Involvement of the upper extremities is also common. Spasticity in the upper extremities occurs in approximately 20% of patients with myelomeningocele. It
has been related to the number of shunts required to control hydrocephalus and has been shown to adversely affect independence in activities of daily living
(ADL).
In patients with hydrocephalus, lack of upper extremity coordination is also seen. This lack of coordination also may be related to Chiari II malformation,
motor-learning deficits, and/or delayed development of hand dominance. Affected children have problems with fine motor tasks, particularly when timed. Newonset weakness or spasticity in the upper extremities may be a hallmark of progressive neurologic dysfunction.

Spinal and lower extremity deformities


Spinal and lower extremity deformities and joint contractures are prevalent in children with myelomeningocele. Multiple factors may be involved, including
intrauterine positioning, other congenital malformations, muscle imbalances, progressive neurologic dysfunction, poor postural habits, and reduced or absent
joint motion.
Spinal deformities may be congenital or acquired. Vertebrae and rib anomalies are associated with congenital or early development of severe kyphotic and
scoliotic deformities. Acquired scoliosis is neuromuscular in origin and is related to muscle imbalances. [30] Increased lumbar lordosis and kyphosis of the entire
spine or localized to the lumbar region are also observed. All of the spinal deformities occur more frequently in groups with higher spinal lesions.
Thoracic and high-lumbar lesions
The lower extremity deformities that occur are related to the functional level of the lesion. Thoracic and high-lumbar groups tend to have increased
prevalences of the following:

Lumbar lordosis
Hip abduction and external rotation contractures
Knee flexion
Equinus contractures of the ankles
Unopposed hip flexion and adduction contractures in the high-lumbar group frequently result in dislocated hips.
Mid- and low-lumbar lesions
The mid- and low-lumbar groups often have the following deformities:

Hip and knee flexion contractures


Increased lumbar lordosis
Genu valgus and calcaneal valgus malalignment
Overpronated feet
Sacral lesions
Patients in the sacral group often exhibit mild hip and knee flexion contractures and increased lumbar lordosis with various ankle and foot positions.

Stature
Children with myelomeningocele are often short in stature. This has been related to multiple factors, including the following:

Structural issues (eg, abnormalities of the spinal column and lower limb contractures)
Functional spinal level: This influences the amount of neurotrophic input from the lower extremities on appendicular skeletal growth
Alteration in the hypothalamic-pituitary axis, with associated growth hormone deficiency

Weight
Weight should be assessed in patients with spina bifida. Because of their decreased linear limb growth and spine growth, patients should be monitored for
weight using arm-span measurements, as opposed to ratios of height versus weight. During growth spurts, patients require close monitoring for the
development of any deformities, from scoliosis to deformities of the lower extremities.

Cranial nerve dysfunction


Symptoms of cranial nerve dysfunction include the following:

Ocular muscle palsies


Swallowing and eating problems
Abnormal phonation

These symptoms may be related to the Chiari II malformation, hydrocephalus, and/or brainstem dysplasia.

Lower brainstem dysfunction


While symptoms are often mild, lower brainstem dysfunction is the leading cause of death in infants with myelomeningocele because of associated stridor,
apnea, and aspiration pneumonitis. Common symptoms of lower brainstem dysfunction in infants include the following:

Abnormal cry
Swallowing or feeding difficulties
Frequent vomiting or gastroesophageal reflux
Older children and adults may present with the following:

Weakness or spasticity of the upper extremities


Headache or neck pain
Cerebellar dysfunction
Oculomotor changes
Scoliosis

Tethered spinal cord


A tethered spinal cord is caused by the tendency for the spinal cord to adhere to the meningocele repair and can prevent the normal cephalad migration of
the cord during growth. A tethered cord is present anatomically in most children with myelomeningocele; the diagnosis of tethered cord syndrome is confirmed
on the basis of clinical signs and symptoms, which can include pain, sensory changes, spasticity, and progressive scoliosis.
However, uncontrolled hydrocephalus and Chiari II malformation must be excluded as causes of these symptoms. Moreover, symptoms similar to those of
tethered cord syndrome can also be caused by other intraspinal pathologies (eg, mass lesions of the cord, diastematomyelia, cord cavitation and narrowing,
adhesions, dural bands).

Syringomyelia
Syringomyelia is caused by uncontrolled hydrocephalus that results in entry of cerebrospinal fluid (CSF) into the central canal of the spinal cord, causing
dilatation and pressure. While this is a common MRI finding in patients with myelomeningocele, this condition is symptomatic in only 2-5% of cases.
Symptoms described include the following:

Progressive scoliosis
Spasticity
Increasing weakness of the extremities

Diagnostic Considerations
Meningocele and myelomeningocele must be differentiated. Meningocele is the herniated protrusion of only the meninges through a defect in the cranium or
vertebral column. This lesion does not contain neural tissue in the sac.
Spina bifida occulta is a common radiographic finding characterized by simple lack of fusion of vertebral spinous processes. The spinal cord itself is normal.
Tethered spinal cord
As previously mentioned, the diagnosis of tethered cord syndrome is confirmed on the basis of clinical signs and symptoms, which can include pain, sensory
changes, spasticity, and progressive scoliosis.
However, uncontrolled hydrocephalus and Chiari II malformation must be excluded as causes of these symptoms. Moreover, symptoms similar to those of
tethered cord syndrome can also be caused by other intraspinal pathologies, such as the following:

Mass lesions of the cord


Diastematomyelia
Cord cavitation and narrowing
Adhesions
Dural bands
Proceed to Workup

Approach Considerations

In the United States, antibiotics, sac closure, and ventriculoperitoneal shunt placement are the standard of
care for spina bifida and are implemented in the perinatal period in 93-95% of patients. Supportive care
alone may be recommended in cases associated with an irreparable sac, active gross CNS infection or
bleeding, and/or other gross congenital organ anomalies causing life-threatening problems.
Patients with spina bifida require extensive, active, interdisciplinary treatment by a trained and coordinated
team. Neonatal neurosurgery is followed by monitoring of head size and condition for potential
hydrocephalus, evaluation of sphincters, and progression toward an appropriate bowel and bladder regimen.
[31, 32]

Early monitoring of motor function in the lower extremities also is necessary. Such monitoring should later
consist of serial orthopedic examination, including muscle strength and joint range of motion (ROM)
assessment, to detect any early changes that may require intervention. In addition, patients should be
monitored for appropriate development and be provided with prolonged physical therapy, gym resources,
and adaptive training while in school. Subsequent efforts are necessary to encourage, develop, and maintain
independence.
Considerable attention may be needed to prevent the "outhouse syndrome," in which the patient's physical
problems give rise to social consequences because of a failure to comply with an appropriate bowel regimen.
Clean intermittent catheterization has been a very helpful adjunct to the preservation of urinary function.

Rehabilitative therapies
In addition to physical therapy, rehabilitation for spina bifida includes occupational and recreational therapy;
speech therapy may be indicated for patients with speech and/or swallowing difficulties.[33, 34, 35, 36]
Physical therapy programs are designed to parallel the normal achievement of gross motor milestones.
Occupational therapy should be initiated early to compensate for motor skill deficits and should progress
along the normal developmental sequence. Recreational therapy is helpful for promoting independence by
enhancing play and recreational opportunities.

Bladder Management
Treatment strategies are designed to prevent deterioration of renal function and to establish infection-free
social continence. These goals can be accomplished by several different methods of bladder drainage,
including intermittent catheterization, vesicostomy, and placement of indwelling catheters.
Clean intermittent catheterization on a regular schedule is preferred to the use of long-term indwelling
catheters, as it keeps children drier, less prone to infection, and in better control of urinary function. This
technique is used from birth, if indicated, for reduction of bladder pressures or may be initiated to establish
social continence at a developmentally appropriate time.
However, intermittent catheterization may not be feasible for, or accepted by, the caregivers of infants and
young children. In these cases, a temporary vesicostomy, in which an opening in the bladder is brought out
to the level of the skin, may be a useful alternative. Vesicostomies can drain spontaneously and/or be
catheterized.

Intravesical transurethral bladder stimulation has been shown to improve bladder compliance through
increased functional bladder capacity and to improve sensation; however, this type of stimulation has been
less successful in achieving volitional voiding and total urinary control.
Long-term maintenance of low bladder pressures may require the adjunctive use of medications to reduce
bladder pressures and/or decrease spastic or hypotonic sphincter function. The success rate of intermittent
catheterization and/or anticholinergic medications in achieving continence is estimated to reach 70-80%.
Children whose high bladder pressures are refractory to intermittent catheterization and/or medications
(approximately 15-30% of patients with myelomeningocele) are candidates for surgical intervention. Various
surgical techniques for augmentation cystoplasty and urinary diversion have been described in the literature.
When infection occurs, antibiotics are used in combination with the usual techniques of bladder
management. In general, high fluid intake is recommended to assist the flow of urine, as residual urine in the
bladder fosters bacterial growth and infection.

Bowel Management
Abnormal anal sphincter function and anorectal sensation are associated with myelomeningocele involving
spinal segments S2-S4. Many individuals with myelomeningocele, therefore, do not have the sensation and
control needed to defecate volitionally. The result is bowel incontinence, often with related problems of
constipation and impaction. Fecal incontinence can become a serious barrier to attending school, obtaining
employment, or sustaining an intimate relationship.
Assisted bowel programs designed to empty the bowels regularly can establish social continence and prevent
constipation. Patients are guided to develop a regimen for bowel movements, usually on a daily or everyother-day basis. These programs typically attempt to take advantage of the gastrocolic reflex by timing the
bowel movement after a meal, typically breakfast or dinner.
Some patients are able to use the Valsalva maneuver to defecate, but some may need the assistance of digital
stimulation, a stimulant suppository, and/or an expansion enema. Use of these techniques can help the
patient to achieve proper timing of the bowel movement and complete evacuation. A high-fiber diet,
sometimes in combination with use of stool softeners, may help to optimize stool size and consistency.
Individualized programs are necessary for proper bowel management, given the different manifestations of
defecation dysfunction seen in patients with myelomeningocele. Consistency of the routine is extremely
important for avoidance of accidents. Behavior modification and biofeedback techniques have increased
success in achieving bowel continence in some children with myelomeningocele.

Bracing and Orthotics


The goal of bracing is to allow patients to function at the maximum level permitted by their neurologic
lesion and intelligence. Bracing also ensures a normal developmental progression, its aim being to enable
patients to ambulate and to participate in appropriate age-related activities. Finally, orthotics should aid in
minimizing the energy needed for the patient to maintain mobility levels.
In infants aged 9 months and younger, sitting balance and support may be provided with a standard car seat,
elevated 45-60. A car seat may be appropriate to maintain mobility with head and trunk control and to

increase upper-extremity strength in children as old as 18 months. A standing frame may be used for those
aged 1-2 years to diminish the degree of osteoporosis and to limit the contracture of the hip, knee, and ankle.
A parapodium may be helpful for children aged 3-12 years, allowing them to gain greater experience in
standing and in manipulating work with their upper extremities at a table or desk. Because parapodiums are
cumbersome, however, their use is limited as patients get older.
Subsequently, a wheelchair can provide mobility and often is used with a molded ankle-foot orthosis
(MAFO). As the child has less neurologic input, a knee-ankle-foot orthosis (KAFO) may be helpful in
allowing ambulation. Hip-knee-ankle-foot orthoses (HKAFOs) generally are useful in therapy but are not
practical for long-term use.
The addition of a reciprocating gait orthosis (RGO) may help in reducing the energy expenditure required
for mobility. Success with the RGO requires proper selection, strong motivation, and realistic goals and
expectations. The patient and caregivers also must be able to participate in a training program and make
frequent visits for orthotic repairs.

Physical Therapy
General functional expectations have been developed for patients in each lesion-level group to help direct
physical therapy goals within an appropriate developmental context from infancy through adulthood.[37] The
therapy programs should be designed to parallel the normal achievement of gross motor milestones.
In treating newborns with myelomeningocele, the physical therapist establishes a baseline of muscle
function. As the child develops, the therapist monitors joint alignment, muscle imbalances, contractures,
posture, and signs of progressive neurologic dysfunction. The physical therapist also provides caregivers
with instruction in handling and positioning techniques and recommends orthotic positioning devices to
prevent soft tissue contractures.
Provide the infant with sitting opportunities to facilitate the development of head and trunk control. Near the
end of the first year of life, provide the child with an effective means of independent mobility in conjunction
with therapeutic exercises that promote trunk control and balance.
For patients who are not likely to become ambulatory, place emphasis on developing proficiency in
wheelchair skills. For patients who are predicted to ambulate, pregait training should begin with use of a
parapodium or swivel walker. Exercise or household-distance ambulation may be pursued with the use of
traditional long leg braces (eg, KAFOs, HKAFOs) or RGOs.
Teach the school-aged child community-level wheelchair mobility skills, emphasizing efficiency and safety.
The physical therapist assists with assessment of the community, home, and school environments to
determine whether architectural barriers exist that may interfere with the child's daily activities.

Occupational Therapy
Children with spina bifida often have impairment in fine motor skills and in conducting activities of daily
living (ADL). Initiate training early to compensate for these deficits and to progress along the developmental
sequence as closely as possible.

Upper extremity stabilization and dexterous hand use require adequate postural control of the head and
trunk. In the first year of life, encourage development of these postural mechanisms or substitute passive
support, if necessary, to promote eye-hand coordination and manipulatory skills. When adequate fine motor
skills have been achieved, the occupational therapist provides instructions for the use of adaptive equipment
and alternative methods for self care and other ADL for preschool- and school-aged children.

Recreational Therapy
Children with myelomeningocele often experience restricted play and recreational opportunities because of
limited mobility and physical limitations.[38] This inactivity decreases the potential for normal development in
all spheres and can exert a negative impact on self-esteem.
For the infant and toddler with myelomeningocele, recreational therapy enhances opportunities for
environmental exploration and interaction with other children. For the school-aged child, recreational
therapy provides opportunities for participation in adapted sports and exercise programs, which can result in
long-term interest in personal fitness and health.
Recreational and physical fitness goals include socialization, weight control, and improved fitness (eg,
flexibility, strength, aerobic capacity, cardiovascular fitness, coordination). Recreational therapy is useful for
promoting independence with adult living skills and often is employed to help the patient shop for and
purchase personal items, use public transportation, and develop appropriate leisure activities.[37, 38]

Myelomeningocele Closure
Closure of the myelomeningocele is performed immediately after birth if external cerebrospinal fluid (CSF)
leakage is present. In the absence of CSF leakage, closure typically occurs within the first 24-48 hours. The
surgery can be delayed for several days without additional morbidity or mortality, giving families more time
to deal with the emotional impact of their childs condition. This delay also gives parents more time to learn
about myelomeningocele and to therefore better participate in the decision-making process regarding their
childs treatment.
Steps in the closure procedure include extensive undermining of the skin, dissection of the neural plaque that
is replaced into the spinal canal, and meticulous watertight closure of the dura, fascia, subcutaneous tissues,
and skin. (See the images below.)

Neonate with a lumbar myelomeningocele with an L5 neurologic


level. Note the diaphanous sac filled with cerebrospinal fluid and containing fragile vessels in
its membrane. Also, note the neural placode plastered to the dorsal surface of the sac. This
patient underwent closure of his back and an untethering of his neural placode. The neural
placode was circumnavigated and placed in the neural canal. A dural sleeve was fashioned in

a way that reconstructed neural tube geometry.


Sagittal, T1-weighted
magnetic resonance imaging (MRI) scan of a child after closure of his myelomeningocele.
Child is aged 7 years. Note the spinal cord ends in the sacral region far below the normal level
of T12-L1. It is tethered at the point at which the neural placode was attached to the skin
defect during gestation. The MRI scan showed dorsal tethering, and the child complained of
back pain and had a new foot deformity on examination. By definition, all children with a
myelomeningocele have a tethered cord on MRI, but only about 20% of children require an
operation to untether the spinal cord during their first decade of life, during their rapid growth
spurts. Thus, the MRI scan must be placed in context of a history and examination consistent
with mechanical tethering and a resultant neurologic deterioration.

Neurosurgical follow-up is required to recognize the complications of hydrocephalus or a possible tethered


cord and to monitor any potential causes of seizure activity. In addition, urologic evaluation is necessary to
establish a bladder regimen to prevent frequent urologic infections and to recognize and treat early, potential
hydronephrosis or other causes of renal damage that can limit life expectancy.
Perioperative complications include wound infection, CNS infection, delayed wound healing, CSF leakage,
additional neurologic damage to the cauda equina, and acute hydrocephalus. Long-term complications
include cord tethering and progressive hydrocephalus.

Shunting for Hydrocephalus and Syringomyelia


Although in a few cases hydrocephalus arrests spontaneously, 80-90% of children with myelomeningocele
ultimately require shunting. Ventriculoperitoneal shunting is the preferred modality. Alternatives include
ventriculoatrial and ventriculopleural shunting.
Perioperative complications include intracerebral and/or intraventricular hemorrhage, bowel perforation, and
infection. Long-term complications include infection, overdrainage or underdrainage, and obstruction of the
shunt system.
Shunt dysfunction, which may result in an acute or chronic rise in intracranial pressure, occurs more
commonly in the first 2 years of life. Diagnosis may be difficult, as early signs and symptoms are extremely
variable and often nonspecific.
Symptomatic syringomyelia may resolve after shunt insertion or revision. If symptoms persist in the absence
of a shunt malfunction, surgical intervention may involve a Chiari decompression or direct shunting of the
syrinx.

Chiari Malformation Repair

The Chiari II malformation results in problems severe enough to warrant surgical intervention in
approximately 15-35% of patients with myelomeningocele. Potential surgical candidates include patients
with the following:

Vocal cord weakness or paralysis


Significant stridor
Apnea
Aspiration
Sensorimotor deterioration

Treatment initially involves control of hydrocephalus. If this does not improve symptoms, surgical repair of
the Chiari II malformation is pursued. This involves an occipital craniotomy and upper cervical laminectomy
for decompression of the medulla and upper cervical spinal cord.

Orthopedic Procedures
Musculoskeletal problems in myelomeningocele can be congenital or acquired and often require orthopedic
intervention. Orthopedic surgeries are directed toward functional improvement as opposed to correction of
radiologic findings.

Kyphosis and scoliosis


Spinal deformities are common in myelomeningocele, and progressive kyphosis or scoliosis may lead to a
decline in functional status and to an increased risk for the development of decubitus ulcers and
cardiopulmonary compromise.
Spinal stabilization is necessary to correct kyphosis, which may be related to congenital vertebral
malformation or may be a result of the collapsing spine in high-thoracic paraplegia. The development of
techniques such as decancellation and longer fusions, along with earlier intervention (around age 3 y), has
improved outcomes.
Scoliosis affects 30-50% of children with myelomeningocele and may be the result of asymmetrical muscle
forces, unilateral hip dislocation and pelvic obliquity, or an underlying, progressive neurologic process such
as tethered cord syndrome. Spinal orthotic devices may serve as a temporizing measure, but growing
children with spinal curves greater than 30-35 typically require surgical fusion. Lumbosacral fusions are
avoided in order to preserve pelvic motion.

Hip relocation surgery


Paralytic muscle imbalance around the hip joints may lead to progressive hip dislocation. This typically
occurs in early childhood in patients with high- and mid-lumbar lesions and in late childhood or adolescence
in children with low-lumbar lesions.
The literature evaluating the benefits of surgical relocation of the hips reflects the ongoing controversy
surrounding the topic.[39] No good evidence supports the functional benefits of hip relocation surgery in
patients with high-lumbar lesions. Surgery to release contractures limiting motion at the hip and causing an
asymmetrical gait is recommended in patients with low-lumbar myelomeningocele and hip dislocation.

Surgery for relocation of the hips is indicated for patients who ambulate without support and have a strong
quadriceps, a good ROM for the hip, and a level pelvis or sacral-level lesions. Gait analysis has been
proposed to better understand these complex systems and may refine future indication, but long-term follow
up is critical.

Correction of knee contractures


Common knee deformities in myelomeningocele include flexion and extension contractures, usually related
to a capsular contracture. Surgery is indicated when the contracture causes a functional problem. Types of
procedures include a simple tenotomy of the knee flexor tendons in the child with a high-level lesion, and
lengthening of the tendons in the child with a low-lumbar or sacral-level lesion, for whom preservation of
hamstring function is important.
Extension contractures are less common, but they interfere with sitting and are associated with hip
dislocation and clubfoot. If the contracture is not amenable to conservative measures (eg, serial casting), an
extensor tendon release is performed.

Correction of rotational deformities


The most common rotational deformities seen in myelomeningocele are internal and external tibial torsion.
These may result in significant gait deviations that affect functional mobility. The combination of femoral
anteversion and excessive external tibial torsion, which is often seen in patients with low-lumbar and sacrallevel lesions, can lead to abnormal valgus stress at the knee and can cause knee pain and arthritis in adult
life.
Some rotational malformations improve with growth and/or the use of bracing. If improvement is not noted
by age 6 years, surgical correction is indicated.

Correction of foot and ankle deformities


Foot and ankle deformities may cause skin breakdown and prevent the patient from wearing shoes and/or
orthotics. Since almost all patients with myelomeningocele require orthoses, the goal of orthopedic
treatment is achievement of a supple and flexible foot.
In the case of clubfoot, most patients need surgical correction in the first year of life, usually involving
multiple soft tissue release procedures with tendon excisions. In older children, other types of deformities
(eg, equinovalgus, cavus, calcaneovarus, calcaneovalgus) may require extra-articular bony procedures and
tenotomies in order to correct the muscle imbalances and achieve a supple plantigrade foot that can tolerate
a brace. Arthrodesis is rarely indicated but may be necessary in cases of severe ankle instability.

Consultations
Patients who are born with a sac containing neural elements of the spine require neurosurgical closure of the
defect in the neonatal period. They should be referred to an interdisciplinary clinic that includes the services
of an orthopedic surgeon. Manifestations of myelomeningocele change as the infant develops, and
multidisciplinary interventions are required to prevent the progressive deterioration of the multiple body
systems affected.

The treatment team usually consists of pediatric specialists in physical medicine and rehabilitation,
neurosurgery, urology, and orthopedics along with pediatric nursing, physical therapy, occupational and
recreational therapy, psychology, and medical social work. A multidisciplinary clinic setting facilitates the
coordination of comprehensive care for the patients.

Long-Term Monitoring
Children with myelomeningocele should be scheduled for regular follow-up visits in the multidisciplinary
clinic every 6 months throughout childhood and annually thereafter. More frequent visits with certain
specialists may be necessary, depending on the outstanding medical and surgical issues that present at
different times during the child's development.
Pediatric evaluation is appropriate for any child and, specifically, should include efforts to help the patient
maintain a reasonable weight, because children without ambulation tend to gain excessive weight and
develop associated morbidity. Endocrinologically, a growth hormone deficiency may be present, which
could cause patients to be about 1 foot shorter than their peers. Consultations with an orthotist, a physical
therapist, and a dietitian are appropriate to maintain optimal development and to maximize accessibility and
independence.
Because muscle imbalance causes progressive, resistant deformities, the patient with spina bifida must be
evaluated frequently by members of his or her support team. In this way, they can assess muscle groups,
emphasize the need for balance to prevent deformities, and serially document changes that may result from a
tethered cord, hydrocephalus, or other associated complications (eg, seizure disorder).
Frequent review of spina bifida support systems, aggressive shunting of hydrocephalus, the cooperation and
success of patients in physical therapy, and assessment of the status of patients' braces, crutches, or
wheelchairs are necessary for maximizing function in a multidisciplinary setting. With supplementary
physical and occupational therapy, many children who were born with spina bifida can participate in
mainstream society, gaining independence and success.
After childhood, group homes may be used to train patients with spina bifida to live independently. Clearly,
these individuals have substantial problems. A supportive clinic and extensive interdisciplinary program are
necessary to meet the affected individual's needs.
Because treatment and intervention for spina bifida involve the patient's entire family, parents can suffer
significant stress, an area of concern for the pediatrician. It is necessary for the physician to counsel parents
and family, informing them of the ramifications of the condition and of the surgical and medical care needed
to maximize function.
While no cure for the patient is possible, pessimistic attitudes of or unrealistic expectations by the family, as
well as parental feelings of guilt, anxiety, and inadequacy, must be addressed.

Prevention
Since the late 20th century, the incidence of myelomeningocele has undergone a significant reduction in the United States and worldwide. This decline is
related to the increasing availability and accuracy of prenatal diagnosis, along with the option for early pregnancy termination and the introduction of primary
prevention in the form of folic acid therapy in the periconceptual phase. [9]
Studies demonstrating a reduction in the frequency of spina bifida with folic acid supplementation during pregnancy are accumulating, with reduction reported
on the order of 50%.[40, 41, 42, 43]

Bell and Oakley reported that current worldwide programs of folic fortification of wheat and maize flour have resulted in an annual worldwide decrease of
about 6600 folic acid-preventable spina bifida and anencephaly cases since 2006. They noted that the pace of preventing these serious birth defects could be
accelerated if more countries were to require fortification of both wheat and maize flour and if regulators were to set fortification levels high enough to
increase a woman's daily average consumption of folic acid to 400 mcg. [44, 45] The US Preventive Services Task Force Recommendation remains 400-800 mcg
of folic acid daily.
However, the metabolism of folic acid appears to be abnormal in affected patients, suggesting that spina bifida may result from an inherited defect rather than
strictly from a deficiency.
High intake of folic acid may mask the anemia of vitamin B-12 deficiency and allow neurologic damage to progress untreated, so widespread folic acid
supplementation has been recommended with caution, but in pregnancy it has had gratifying benefits. Improved understanding of the genetic factors involved
in spina bifida could better allow its prevention.

Medication Summary
The medications used most frequently in myelomeningocele are for treatment of neurogenic bladder dysfunction. These medications are used in conjunction
with some form of bladder emptying technique to prevent upper urinary tract complications and to facilitate social continence. Among the drugs used are the
following:

Anticholinergics (oxybutynin chloride, hyoscyamine sulfate)


Tricyclic antidepressants (imipramine hydrochloride; may act through anticholinergic effects)
Alpha-adrenergic antagonists (terazosin)

Antispasmodic Agents, Urinary


Class Summary
These drugs competitively inhibit the binding of acetylcholine to the muscarinic cholinergic receptor, thereby suppressing involuntary bladder contraction of
any etiology. In addition, they increase the volume at the first involuntary bladder contraction, decrease the amplitude of the involuntary bladder contraction,
and, possibly, increase bladder capacity.

Oxybutynin chloride (Ditropan, XL, Gelnique, Oxytrol)

View full drug information


Oxybutynin chloride (Ditropan, XL, Gelnique, Oxytrol)
Oxybutynin exerts a direct antispasmodic effect on smooth muscle and inhibits muscarinic action of acetylcholine on smooth muscle. It is used to decrease
bladder contractility and reduce detrusor-sphincter dyssynergia. Intravesical instillation of oxybutynin is associated with fewer side effects. A long-acting oral
form is also available, for once-daily dosing.

Anticholinergics
Class Summary
Anticholinergics are used to suppress detrusor overactivity.

Hyoscyamine sulfate (Levsin, Levbid, Symax, Anaspaz, HyoMax)

View full drug information


Through parasympatholytic action, hyoscyamine relaxes smooth muscle spasms. It is indicated in the management of lower urinary tract disorders associated
with hypermotility.

Tricyclic Antidepressants
Class Summary
Tricyclic antidepressants may act through anticholinergic effects.

Imipramine hydrochloride (Tofranil)

View full drug information

Imipramine has significant anticholinergic activity, as well as some alpha-adrenergic activity. These combined effects may improve bladder-urethral
storage function.

Alpha-Adrenergic Antagonists
Class Summary
Alpha-adrenergic receptors are found in the bladder neck and urethra. Alpha-adrenergic antagonists decrease bladder outlet resistance, increase urinary flow
rate, and improve bladder emptying.

Terazosin

View full drug information


Terazosin is an alpha 1-adrenergic blocking agent that decreases smooth muscle tone in the bladder neck, leading to reduction of bladder outlet obstruction
without affecting bladder contractility. Its major side effects are postural hypotension and syncope, which can be avoided by starting at the lowest dose and
increasing slowly. If terazosin therapy is discontinued for several days, restart using the initial dosing regimen.

Doxazosin mesylate (Cardura, Cardura XL)

View full drug information


Doxazosin is a selective inhibitor of alpha1-adrenergic receptors. Blockade of these receptors in the bladder neck decreases outflow resistance.

Alfuzosin (Uroxatral)

View full drug information


Doxazosin is a selective inhibitor of alpha1-adrenergic receptors. Blockade of adrenoreceptors relaxes smooth muscle in the in the bladder neck, which, in
turn, decreases outflow resistance.

esponsibility of nurse in meningocele and meningomyelocele


Until the operation is performed the newborn should be :
1- Kept flat on his abdomen with a single layer of sterile gauze.
2- The genitalia and buttocks must be kept clean.
3- The ankles should be supported with foam rubber pads so that the toes do not rest upon the bed.
4- Antibiotics must be given if infection is suspected.
5- Emptying the infants bladder every 2 hours during the day and once at night, pressure should be applied firmly but gently beginning in
the umbilical area and slowly progressing under the symphysis pubis and toward the anus.
6- If evidence of urinary infection occur culture should be done to determine the antibiotics.
7- The infant should be held for his feeding.
8- The nurse records the activity of the legs and the degree of continence, whether there is constant or intermittent dribbling , noting
whether there is retention of urine or fecal impaction .All the vital signs should be taken and recorded with extreme care.
Responsibility of the nurse postoperatively
1. The nurse is responsible for observing temp,pulse,R.R,symptoms of shock, abdominal distention.
2. Head circumference of the infant must be measured frequently.
3. Surgical dressing should be kept clean.
4. Cast applied to the child legs should be positioned properly and handled carefully.
5. Nutrition is important.
Post operative rehabilitation
Orthopedic and urologic physician should be consulted during the infant first admission for evaluation. Habilitation of the child is
necessary after operation.