Spina Bifida Causes, Symptoms and Treatment
Spina Bifida Causes, Symptoms and Treatment
By Dr.Ravindra Patil
What is Spina Bifida?
Spina bifida is a birth defect in which an area of the spinal column doesn’t form properly, leaving a section of the spinal cord and spinal nerves exposed through an opening in the back. Spinabifida occurs in 1 per 2,000 live births.
Table of Contents
Myelomeningocele
The most common and serious form of spinabifida is called myelomeningocele, in which a part of the spinal cord and surrounding nerves push through the open bones (vertebrae) in the spine and protrude from the foetus’s back. In myelomeningocele, spinal cord and nerves protrude from the back in a sac that is exposed to the amniotic fluid. Continuous bathing of the fragile developing spinal cord in amniotic fluid over the course of gestation is thought to result in progressive neurologic injury.
Other types of spina bifida
Other types of spinabifida include myeloschisis, lipomeningocele and myelocystocele. Open neural tube defects such as myelomeningocele and myeloschisis are treatable by foetal repair. Closed neural tube defects such as lipomeningocele and myelocystocele are not treatable by foetal repair.
Causes of spina bifida
Myelomeningocele has genetic and micronutrient causes. Mothers who have had a baby with spinabifida have up to a 4 percent risk of recurrence in subsequent pregnancies.
Spina bifida symptoms
The myelomeningocele lesion can occur at any level on the developing spine, but most are found in the lumbo-sacral region. Depending on the lesion’s location, myelomeningocele may cause:
- Bladder and bowel problems (incontinence)
- Sexual dysfunction
- Weakness and loss of sensation below the defect
- Inability to move the lower legs (paralysis) and other cognitive impairments
- Orthopaedic malformations such as club feet or problems of the knees or hips
- Generally, the higher the defect is located on the spine, the more severe the complications.
In many cases, the brain develops an Arnold-Chiari II malformation, in which the hindbrain herniates or descends into the upper portion of the spinal canal in the neck. This herniation of the hindbrain blocks the circulation of cerebrospinal fluid, causing hydrocephalus (accumulation of fluid in the brain), which can injure the developing brain. Ventricular shunting (placement of a thin tube into the ventricles of the brain) is used to drain fluid and relieve hydrocephalus.
Hindbrain Herniation and Ventricular Shunting
Ventricular shunting is done to treat hydrocephalus. It involves placement of a thin tube into the ventricles of the brain to drain fluid and relieve hydrocephalus. The other end of the tube is usually put in the peritoneum [abdomen] of the patient for continuous drain.
Evaluation and diagnosis of spina bifida
As with other birth defects, most myelomeningoceles are discovered by routine ultrasound evaluation between 16 and 18 weeks into the pregnancy. Sonographic features suggestive of myelomeningocele include a cystic mass anywhere on the spine. Abnormally high alpha-fetoprotein (AFP) will support the diagnosis.
Other evaluation methods for suspected spinabifida are:
- High-resolution level II ultrasound — to confirm the diagnosis and determine the location of the lesion, and to assess for any other birth defects such as club feet
- Ultrafast foetal MRI — to confirm presence of the Chiari II malformation and to screen for evidence of any other neurologic abnormalities
- Foetal echocardiogram — to determine any problems with the heart
- Amniocentesis — to confirm the presence of elevated amniotic fluid alpha-fetoprotein (AFAFP) levels and acetylcholinesterase (AChE), which indicate open neural tube defects
- Maternal serum alpha-fetoprotein (MSAFP) test — to confirm elevated AFP levels in the mother’s blood
After evaluation, a multidisciplinary team works together to review test results, confirm the diagnosis, explain spina bifida treatment options and potential outcomes, and answer all the patient’s questions.
Treatment
The two main spina bifida treatment options are foetal surgery during pregnancy or surgery on the baby right after birth.
Deciding whether prenatal or postnatal spinabifida repair is appropriate is influenced by several considerations, including gestational age, the level of the myelomeningocele lesion on the spine, presence of the Chiari II malformation, and a number of important maternal health factors.
Spina bifida surgery after birth
If postnatal spina bifida surgery is recommended or selected, your pregnancy is monitored and a caesarean delivery is planned at 37 weeks.
Traditional spina Bifida treatment takes the form of surgical repair 24 to 48 hours after birth. Your child will undergo general anaesthesia. A paediatric neurosurgeon removes the MMC sac, if one is present, and closes the surrounding tissue and skin over the defect to protect the spinal cord. After surgery, your baby will receive care in the Neonatal Intensive Care Unit (NICU).
Spina bifida surgery before birth
Because spinal cord damage is progressive during gestation, prenatal repair of myelomeningocele may prevent further damage. Scientific studies have demonstrated that prenatal repair can offer significantly better results than traditional postnatal repair.
- It reduced the need to divert fluid from the brain using ventricular shunting
- Reduced the incidence or severity of neurological effects such as impaired motor and sensory function of the legs
- Improved mobility and improved the chances that a child will be able to walk independently
- Reversed the hindbrain herniation component of the Arnold-Chiari II malformation
Foetal surgery for spinabifida is a complex and challenging procedure, requiring the most expert, comprehensive care for both mother and foetus. The surgical team’s level of experience and all aspects of care surrounding the operation are of paramount importance.
If your unborn baby has been diagnosed with myelomeningocele, the surgery is performed between 23 weeks and 25 weeks of gestation.
Spina bifida prognosis
Rarely, children can die due to complications associated with Chiari II malformation or hydrocephalus. Many patients require shunts (85 percent), and 45 percent of shunts develop complications within one year.
Follow-up care
Children operated for spina Bifida require comprehensive long-term follow-up, from the time of repair through adolescence. It is team work of a paediatrician, nurse, social worker, physical therapist, neurosurgeon, orthopaedic specialists, urologist and genetic counsellor.
Depending on the location of the lesion and outcome after surgery, follow-up care may also include:
- Clean intermittent catheterization
- Bowel management
- Lower extremity bracing
- Physical therapy evaluation and guidance to outside physical therapists and early intervention
- Pressure sore management
- Referral to appropriate psychosocial and financial resources
- Consultation with other subspecialties including ophthalmology, nephrology, nutrition and feeding specialists, and plastic surgery
The Spina Bifida team works closely with each child’s primary care paediatrician and school, and helps families access appropriate community services. Ongoing follow-up is critical when it comes to improving outcomes and advancing treatment for patients with myelomeningocele.
Spina Bifida can lead to a variety of social and emotional challenges and lifelong quality-of-life issues. Hence proper diagnosis during pregnancy is essential.
Spina bifida occulta
Spina bifida occulta is the mildest type of spinabifida. It is sometimes called “hidden” spinabifida. In this birth defect, there is a small gap in the spine, but no sac comes out of the back. The spinal cord and the nerves usually are normal.
At Samarth Neuro & Super Speciality Hospital in Miraj, we are dedicated to providing expert care, ensuring the well-being and quality of life for individuals facing this condition.