Spina Bifida (Myelodysplasia)

  • What is spina bifida?

    Spina bifida (also known as myelodysplasia) is a general term used to describe a varied group of congenital defects in which the fetal spinal cord (posterior neural tube) fails to close completely.  This incomplete fusion leads to a broad range of abnormalities that range dramatically from mild defects to severe deformities.  The most serious cases of spina bifida affect both the spinal cord and brain.

    The cause of spina bifida is unknown, but it’s believed that genetic, nutritional and environmental factors may all play a role.

    At birth, infants with severe spina bifida require complex medical and neurosurgical care. In most cases, careful assessments are required to detect possible related associated medical, neurosurgical, orthopedic and urological conditions. Continued evaluation, including monitoring development, will be done to avoid potential problems and optimize the well-being of children with spina bifida.

    How Boston Children’s Hospital approaches spina bifida

    The Spina Bifida (Myelodysplasia) Program at Boston Children’s Hospital is one of nation’s largest multidisciplinary centers for the care of children with spina bifida (myelodysplasia).

    Our program is a coordinated effort between specialists in neurosurgery, urology, orthopedics, complex care pediatrics, nephrology, physical therapy, neuropsychology, social work and other specialties as needed. Working together as a team allows us to discuss our findings in a collaborative environment

    From performing prenatal ultrasound imaging ( to confirm or eliminate a possible diagnosis of spina bifida) to designing and prescribing corrective casts and other orthopedic devices) to complex surgical procedures,  we are committed to designing a treatment plan that fits the individual needs and circumstances of your child, and to providing emotional and educational support for your entire family.

    Spina bifida: Reviewed by Lawrence Karlin, MD
    © Children’s Hospital Boston, 2012

  • What is Spina bifida?

    • Spina bifida is an umbrella term used to describe a wide variety of congenital defects in the spinal column of a fetus.
    • It’s a type of open neural tube defect (ONTD) in which there’s an incomplete development of the back bones, spinal cord, surrounding nerves and/or the fluid-filled sac that surrounds the spinal cord.
    • The deficiency can occur anywhere along the spine, and can cause a portion of the spinal cord and surrounding structures to develop outside the protection of the spinal column.  About 85 percent of the defects are found in the lower back, with the remaining 15 percent in the back of the neck or upper back.

    What are the three main types of spina bifida?

    Spina bifida occurs in three major types, each of which has varying degrees of severity:

    Spina bifida occulta (hidden)

    • The mildest form, in which there is no obvious sign of a malformation. There’s a gap least one of the bones in the spine (vertebrae), but the skin is intact and the nerves and spinal cord don’t protrude. The child may experience mild or no symptoms.
    • In many cases, spina bifida occulta in children is not detected until an x-ray is done for an unrelated condition.

    Meningocele

    • A moderate form—and the least common—in which the membranes that cover the brain and spinal cord (meninges) protrude through a defect in the spinal column.  The spinal cord typically remains intact, which means that these meninges can be removed surgically with little risk of nerve damage.
    • Lipomeningocele: a variation of meningocele in which a fatty mass (lipoma) is attached (tethered) to the spine and pulls on it. The child may or may not have much nerve damage; there may be urinary and bowel problems. Surgery can release the tethering.

    Myelomeningocele

    • The most severe and most common form of spina bifida in which the backbone and spinal cord fail to close. There’s no (or incomplete) skin formation over the area, and the spinal cord hasn’t developed normally.
    • Children born with myelomeningocele are often fully or partially paralyzed below the defect and usually have difficulty with bladder and bowel control (incontinent). Nerve damage and other severe neurological impairments are also common.

    Causes

    What causes spina bifida?

    During pregnancy, the human brain and spine begin as a flat plate of cells that rolls into a tube, called the neural tube. If all or part of the neural tube fails to close, the opening that’s left is known as an open neural tube defect (ONTD). An open neural tube is exposed 80 percent of the time, and covered with bone or skin 20 percent of the time.

    The cause of spina bifida and other ONTDs remains unknown, but likely results from a combination of genetic, nutritional and environmental factors, such as:

    • Deficiency of folic acid (a B vitamin) intake by the mother during pregnancy
    • Taking enough folic acid at the time of conception and during pregnancy can reduce the risk. Folic acid is now a mandatory vitamin additive in cereals and some grain foods.
    • Uncontrolled diabetes in the mother
    • A high fever during early in her pregnancy
    • More than 90 percent of cases occur without a prior family history of spina bifida. However, having one child with spina bifida increases the chance of having a second child with the same condition by 3 to 5 percent.

    Signs and symptoms

    What are the signs and symptoms of spina bifida?

    The signs and symptoms of spina bifida vary widely, depending on the form of the condition and its severity in the individual child. At birth, the sign and symptoms for each form of the disease include:

    • Spina bifida occulta: Since the spinal cord does not protrude through the skin, there may be no obvious signs or symptoms. However, there may be a small, hairy patch, dimple or birthmark on the lower spine.
    • Meningocele: there will be a fluid-filled sac protruding along the back bone area, which can lead to a large mass on the back.
    • Myelomeningocele: there will a sac-like mass of nerves and spinal cord that protrudes from the back.  This mass consists of meninges (membranes that cover the brain and spinal cord), portions of the spinal cord, and nerves. At birth, babies with myelomeningocele will have an open spinal defect which requires urgent surgery to close the skin and protect the spinal cord and nerves. 

    In severe spina bifida, symptoms related to nerve damage in the lower spine include:

    • Loss of sensation and movement in the legs and feet (paralysis)
    • Poor bladder control (incontinence)
    • Poor bowel control (constipation, incontinence)

    Do children with spina bifida have other health problems?

    Children with spina bifida may have associated health problems, including:

    • Hydrocephalus: the blockage that occurs when spinal fluid builds up in and around the brain. This blockage creates pressure in the head and can cause headaches, nausea and vomiting. Hydrocephalus occurs in up to 90 percent of children with myelomeningocele. If left untreated, hydrocephalus can lead to serious illness and neurological problems, including brain damage.
    • Chiari II malformation: an abnormality that occurs when portions of the hindbrain, along with the brain stem itself, are pushed downward through the skull base opening and into the upper part of the spine.  This can cause pressure on the brain stem and disturbances in the circulation of cerebral spinal fluid, eventually leading to symptoms such as vocal cord weakness, swallowing disturbances, leg weakness and spinal deformities.
    • Orthopedic (bone) problems, including: can develop over time due to the imbalance of muscle strength. These include scoliosis, kyphosis, hip dislocation, joint deformities, clubfoot and weaker than normal bones.
    • Tethered cord: a condition that occurs when a child’s spinal cord is abnormally attached (tethered) to the tissues around the spine. Tethered cord can cause a number of neurologic problems, such as weakness in the legs or feet, back pain, leg pain, problems controlling the bowels or bladder and spinal abnormalities.  
    • Urinary tract infections (UTIs) or kidney malfunction.
    • Latex allergies: children with spina bifida who have been exposed to latex due to frequent medical procedure have a high risk for developing a latex allergy.
  • How is spina bifida diagnosed?

    Severe cases of spina bifida are obvious at birth, with the fluid-filled sac protruding from the newborn’s back. Visual indicators of the lesser form (spina bifida occulta) may include a hairy patch of skin or a dimple along the spinal column. Unusual weakness or lack of coordination in the lower limbs also suggests spina bifida.

    In babies who are less than 4 months, spinal ultrasounds can be used to detect spinal cord tethering and other abnormalities of the spinal cord.

    Prenatal testing

    Diagnostic tests can also be performed during pregnancy to evaluate the fetus for spina bifida.

    These include:

    • Blood tests: The American College of Obstetricians and Gynecologists recommends a blood test between 15 and 20 weeks of pregnancy for all women who haven’t previously had a child with an open neural tube defect (ONTD) and who don’t have a family history of ONTD:
    • The blood test measures alpha-fetoprotein (AFP) levels and other biochemical markers in the mother's blood to determine whether her pregnancy is at increased risk for an ONTD.
    • Although the test can’t diagnose an ONTD with 100 percent accuracy, it can predict which pregnancies are at greater risk, so that additional testing can be performed as the pregnancy progresses.
    • Amniocentesis: a procedure that involves inserting a long, thin needle through the mother’s abdomen into the amniotic sac to withdraw a small sample of the amniotic fluid for examination. The fluid is tested to determine the presence or absence of an open neural tube defect (ONTD) like spina bifida. Although very reliable, this test may not pick up small or closed defects.
    • Prenatal ultrasound (sonography): a diagnostic imaging technique that uses high-frequency sound waves and a computer to create images of blood vessels, tissues and organs. The spinal defect can sometimes be detected on the ultrasound study and can also be used to examine the fetus’ other organs and body systems.
  • How is spina bifida treated?

    In most cases, children born with spina bifida occulta do not need treatment. In cases of meningocele and myelomeningocele, treatment depends on the type of spina bifida and its severity.

    Meningocele

    • Babies with meningocele usually have an operation during infancy in which doctors put the meninges back and close the hole in the vertebrae.
    • Many will have no other health problems later unless there is nerve tissue involved with the sac.

    Myelomeningocele

    • Babies with myelomeningocele need more immediate attention and often have surgery within the first 1 to 2 days after birth.
    • During this first surgery, doctors push the spinal cord and nerves into the vertebrae and close the hole to prevent infection and protect the spine.

    Hydrocephalus:

    •  A baby who also has hydrocephalus (an abnormal build-up of fluid in the brain) will need an operation to relieve the pressure on the brain. This can be done using combined endoscopic third ventriculostomy/choroid plexus cauterization (ETV/CPC), a treatment developed by Benjamin C. Warf, MD, director of the Neonatal and Congenital Anomaly Neurosurgery Program at Boston Children’s Hospital. This technique is effective for infants, in whom ETV alone is not as successful as in older children. CPC reduces the rate of fluid production, while ETV restores the normal fluid circulation.
    • Other babies with hydrocephalus may require shunt placement, a process in which a small tube is implanted while the child is under anesthesia. This provides continual internal drainage of fluid from the spaces within the brain (ventricles).

    Can spina bifida be prevented?

    By the time spina bifida is detected in the fetus, it’s too late to prevent the condition. So a great deal of emphasis is now placed on prevention measures before and during pregnancy. The baby’s brain and spinal cord development may be affected during early pregnancy by several factors affecting the mother, the most critical of which is a lack of folic acid.

    Folic acid is a nutrient found in some green, leafy vegetables, nuts, beans, citrus fruits and fortified cereals that can help reduce the risk of neural tube defects. If you’re of childbearing age, your doctor will encourage you to take appropriate amounts of folic acid.

    Long-term outlook

    What is the long-term outlook for a child with spina bifida?

    At birth, many will have a level of neurological impairment with lower extremity weakness and possible urinary incontinence. There may also be congenital orthopedic deformities such as hip dislocation, spinal deformities and clubfoot.

    Orthopedic (bone) problems can develop over time due to the imbalance of muscle strength. These include scoliosis, kyphosis, hip dislocation, joint deformities, and weaker than normal bones

    Hydrocephalus can cause headaches, nausea and vomiting while Chiari II malformation may result in difficulty swallowing and periods of time where breathing temporarily stops (apneic episodes). Young children may experience precocious puberty. 

    With excellent treatment and care, your child can have a chance to become an active, productive person with a normal or near-normal life span. A great deal of your child’s potential for functioning depends on her neurological status. Our team will do everything possible to help her develop age-appropriate skills.

  • Changing the delivery of care for children with hydrocephalus

    Dario Fauza, MD, a surgeon and affiliate member of the Steam Cell Program at Boston Children’s Hospital, and his team recently published encouraging results in delivering neural stem cells to the spinal cord in addition to surgical repair in an animal model of spina bifida.

    Dr. Fauza has demonstrated that neural stem cells can partially repair damages areas of the spinal cord in a large animal model of spina bifida, which could lead to improved outcomes in the treatment of this disease. Before pursuing human trials, he is working on perfecting the methods for isolation of neural stem cells and their delivery to the fetus or newborn.

    Read more about how neural stem cells may help repair spina bifida in utero.

    In the Department of Urology at Boston Children’s, Carlos Estrada, MD, has been working with embryonic stem cells and induced pluripotent stem (iPS) cells to develop a treatment for the bladder dysfunction that is common in spina bifida. Using a tissue engineering approach, Dr. Estrada’s lab has successfully used these stem cells to recreate the specialized muscle and epithelial cells of the bladder, and is using them for bladder augmentation and reconstruction in mice.

    Improving treatment for hydrocephalus

    Benjamin C. Warf, MD, director of the Neonatal and Congenital Anomaly Neurosurgery Program at Boston Children’s, developed an innovative surgical technique in the treatment of hydrocephalus. The minimally invasive procedure, called endoscopic third ventriculostomy/choroid plexus cauterization (ETV/CPC), offers an alternative to the risky standard treatment of shunt implantation and lifelong shunt dependence. 

    Read more about Dr. Warf’s treatment for hydrocephalus in our science blog, Vector and our health blog, Thriving.

    Innovative surgical treatment for children with spinal deformities

    Lawrence Ira Karlin, MD, an orthopedic surgeon who is involved in the Neuromotor Therapy Program, Orthopedic Trauma Program and Spinal Program at Boston Children’s, is currently doing research focused on spinal deformities and improving the quality of life of children with musculoskeletal disorders.

    Read more about Dr. Karlin’s surgical treatment for spinal deformity on our health blog, Thriving.

  • An organ transplant without rejection?

    In springtime, like many 16-year-olds, Kaitlyne McNamara was planning for her junior prom with excitement. And while it’s always a special occasion, this prom had particular significance for Kaitlyne and her family because of a pioneering procedure she’d had five years before.

    Kaitlyne McNamara
    Kaitlyne McNamara

    When she was just 11, Kaitlyne received a laboratory-grown bladder, making her and six other Boston Children's Hospital patients the first people in the world to receive laboratory-grown organs.

    Kaitlyne was born with spina bifida, a congenital birth defect that causes incomplete closure of the spine and sometimes results in poor bladder function. Because her bladder was stiff and did not stretch as it filled, urine would seep out or sometimes back up, putting her kidneys at risk of permanent damage. She wore diapers but still worried about accidents.

    Typically, surgeons use tissue from the intestine or stomach to repair a bladder, but because the intestine is designed to absorb nutrients, and the bladder is designed to excrete, patients are prone to complications, such as osteoporosis, stone formation and occasionally cancer.

    Children’s urologist, Stuart Bauer, MD, conceived of trying a novel procedure: augmenting a spina bifida patient’s bladder with a bladder grown from her own cells. Bauer and the patient’s family met with Anthony Atala, MD, then-director of Tissue Engineering for the Urology Program at Children's, and Alan Retik, MD, urologist-in-chief. Retik performed a bladder biopsy, taking samples of the outer muscle cells and the urothelial cells that line the bladder walls. The cells were grown in culture in the laboratory until there were enough to place onto a specially constructed biodegradable mold, or scaffold, shaped like a bladder.

    The cells continued to grow, and about seven weeks after the biopsy, the engineered bladder was surgically sutured to the patient’s original bladder. While the tissue healed, she used a catheter to empty her bladder. At her first urodynamics test, less than six months after surgery, Kaitlyne's bladder showed reduced pressures and was able to hold more than it ever had.

    Cells on bladder
    Cells are placed on a biodegradable bladder scaffold in the lab.

    Today, Kaitlyne's bladder functions as well as those fashioned from intestine, but without the negative side effects. And because the organ was grown from her own cells, the risk of rejection was eliminated.

    "This was the first time a complex organ has been constructed using autologous tissues," said Retik. "It's likely that similar organs can be constructed as well."

    As for Kaitlyne, who waited until just a few days before the prom to show her father her formal champagne-colored prom dress, she now feels more fully engaged in her life. "I’m free to do basically whatever I want, and I don't have to wear diapers," she says.

    Kaitlyne's success has made news around the world and has given hope to many. Children's became one of four sites to launch a larger clinical trial of how well organs work when they’ve been grown from a person's own tissue. Patients who have a medical necessity for bladder augmentation, such as those with severe spina bifida, will be the beneficiaries of this research.

    From Children’s News, May 2006.

    Experience Journal

    Read stories, watch videos, and learn about personal experiences from families about what it's like to live with clean intermittent catheterization.

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