What is spina bifida or spinal dysraphism?

So it often happens before a mother knows she is pregnant. As the spine grows from the neural tube, it is called a neural tube defect (NTD). It occurs in 1 in 1000 live births.

How to identify spinal dysraphism?

– presence of hairy patch, dimple, brown spot on the back since birth

– presence of swelling on the back of the infant in the midline since birth

– presence of dimple or sinus (small hole) on the back

Thus, every child born should undergo a thorough spinal evaluation by a clinician to rule out the presence of any neural tube defects.

What are the types of spinal dysraphism?

• Spina bifida:. This is the mildest and most common form of spinal dysraphism occurring in 10-20% of children. In this form, one or more of the bones of the spine (vertebrae) do not come together properly. Most of the time, it is associated with an open or closed neural tube defect.

• Closed neural tube defect – In this type of defects, the neural structures are not exposed, they are either covered with sac or skin. But there can be various malformations present in the fat, spinal bone, spinal cord membranes, spinal cord and nerves.

• Open neural tube defect. – In such cases, the neural structures are exposed to leakage of CSF (cerebrospinal fluid), they are not covered by either the sac or the skin. (for example, ruptured meningocele and myelomeningocele). These babies may have a less favorable prognosis than closed neural tube defects.

Types of neural tube defects:

• Meningocele. – The membranes that cover the brain and spinal cord protrude through an opening in the spine and form a swelling in the back.

• Myelomeningocele. –It is the most severe form of spina bifida. It happens when the spinal bones fail to close and the spinal cord along with the nerves protrude through the spinal defect, forming a swelling in the back. Children with this type are often totally or partially paralyzed, have difficulty controlling their bladder and bowels, have orthopedic problems, and may have problems draining cerebrospinal fluid causing hydrocephalus.

• Attached cord – The spinal cord is held firmly together by a band-like structure called the filum terminale.

• Spinal lipoma – Abnormal fatty tissue attached to the spinal cord

• Diastematomyelia – The spinal cord is divided into two halves.

What are the symptoms of spinal dysraphism?

Symptoms vary greatly depending on the type of spinal dysraphism the child has.

Many children may have no symptoms or only mild symptoms. These may include:

-a small tuft of hair or a dimple or birthmark on the spine

-chronic constipation with no other cause

– chronic urinary or fecal incontinence without other cause

-chronic urinary tract infections

– Recurrent leg or back pain

– Box, Toe Walk

-scoliosis/ curved spine

Few children have noticeable symptoms at birth, such as a small opening in the spine or swelling with a sac protruding from the spine.

What are the medical conditions associated with neural tube defects?

The associations and complications of spinal dysraphism vary depending on the type and severity of the malformation.

Associated conditions may include:

– Hydrocephalus (increased water in the brain)

– Chiari malformation (type II) – hindbrain herniation

– Deformities in the curvature of the spine – scoliosis, kyphosis,

– Neurological problems such as leg or foot weakness, back or leg pain

– Orthopedic (bone) problems, such as hip dislocation, joint deformities and clubfoot

– Urological problems – bladder or bowel problems, urinary tract infections or kidney damage

– Impaired cognitive development and learning disabilities, seizures.

What are the causes of spinal dysraphism? Can it be avoided?

The exact cause of spinal cord dysraphism is unknown. Causal factors can be genetic, nutritional and environmental. Many research studies have proven that a deficiency of folic acid (a component of vitamin B) in a pregnant woman has a higher risk of developing spinal dysraphism in the baby. Therefore, daily folic acid supplementation is recommended for all women of childbearing age, or at least 3 months before pregnancy.

Is the condition of spinal dysraphism hereditary?

In more than 90% of cases, no family member has spinal dysraphism. However, if one parent has spinal dysraphy, there is a 1 in 25 (4%) chance of passing it on to your baby. If already a child is born with spinal dysraphism, there is a chance in 25 (4%) that the second child will have spinal dysraphism. So, if your former child or family member has a neural tube defect, please consult your doctor before planning a pregnancy and start daily folic acid supplementation. before planning a pregnancy.

There is an increased risk up to 10 times (than normal mothers) if the pregnant mother has diabetes.

If the mother takes certain antiepileptic drugs (eg, valproic acid and carbamazepine), which inhibit folate metabolism, the relative risk of neural tube defect in the baby increases. So, please consult your doctor before planning a pregnancy, if you are taking these drugs

Can neural tube defects be diagnosed during pregnancy?

Yes. They can usually be detected in the fetus, but not always. These tests include:

Routine ultrasound (USG): Few defects in the fetal spine can be detected by imaging.

Serum AFP: This screening blood test tests the level of AFP (alpha-fetoprotein) in the blood during the 16th to 18th week of pregnancy. AFP levels are about 75% to 80% higher in women who carry a fetus with neural tube defects.

Fetal MRI – Detects fetal spine malformations in greater detail than USG.

How to treat spinal dysraphisms / neural tube defects?

A thorough physical examination, urological evaluation and urodynamic testing, and radiological evaluation with MRI of the spine should be performed.

Once the type of neural tube defect and its severity are determined, the timing and type of surgery are decided for the repair of these defects.

Other possible treatments a child may need include:

– Surgery for CSF bypass (cerebrospinal fluid) – Endoscopic (ETV) or shunt for hydrocephalus

– Bladder augmentation, reconstructive bladder surgery

for neurogenic bladder/urinary disorders

– Intestinal surgery for intestinal incontinence

– Orthotic or orthopedic surgery for associated deformities of the foot

– Spine surgery for scoliosis

– Physiotherapy (PT) or occupational therapy (OT)

– An Individualized Education Program (IEP) for cognitive issues

How are spinal dysraphisms cared for at Rainbow Children’s Hospital?

Prenatal diagnosis (diagnosis before birth)-

Our expert obstetricians and fetal medicine specialists use biomarkers and the best X-ray imaging techniques to diagnose neural tube defects early, so that an appropriate treatment action plan can be formulated after a baby is born. child. Appropriate maternal counseling is given by expert obstetricians and fetal medicine experts.

Diagnosed after birth (diagnosed after birth) –

Our team of dedicated and expert specialists work together and develop a comprehensive, personalized and coordinated care plan for the treatment of the child with spinal dysraphy. As we know these children may need lifelong follow-up, our special team of doctors (Spinal Dysraphy Care Team) provide age-appropriate care at each developmental stage to reduce any disabilities. and to prepare the child for a more productive and independent life. .

We are one of the few centers in India and the world to offer a comprehensive and coordinated care plan including all the specialties needed to treat children with Spinal Dysraphy under one roof.

Our dedicated Spinal Dysraphism care team includes –

Pediatric neurosurgeon

pediatric neurologist

Fetal medicine experts

Neonatologist and resuscitator

Pediatric surgeon and urologist

Pediatric orthopedic surgeon

Radiologist

Physiotherapist and Occupational Therapist

Genecist

Nutritionist

Dedicated nurse practitioner and team coordinator

What are the recent technologies in the treatment of these spinal dysraphisms?

Our team of expert neurosurgeons perform surgeries using a high-end microscope and intraoperative neuromonitoring (IONM) to increase the safety of surgery and reduce the risk of neurological deficits and disabilities after surgery .

Dr VISHAKHA BASAVRAJ KARPE DNB (GEN.SURG), M.CH (NEURO SURGERY), MRCS (UK)

Consultant Neurosurgery

Rainbow Children’s Hospital, Banjara Hills, Hyderabad

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