Spina bifida is a type of neural tube defect where the spinal column does not close completely during early fetal development. The most severe form, myelomeningocele, involves the protrusion of the spinal cord and meninges through an opening in the back. This condition can lead to weakness or paralysis of the legs, bladder and bowel dysfunction, and other neurological complications. With early diagnosis, surgical closure and multidisciplinary care greatly improve survival, function, and quality of life.
Types of Spina Bifida
- Spina Bifida Occulta: A mild, often hidden form with no visible opening. Usually discovered incidentally on imaging.
- Meningocele: The meninges protrude through the defect but the spinal cord remains intact; neurological function is typically preserved.
- Myelomeningocele: The most serious type, where both the spinal cord and meninges herniate outside the body, often resulting in significant motor and sensory deficits below the lesion.
Symptoms
The symptoms depend on the level and severity of the defect. Common findings include:
- Visible sac or swelling on the newborn’s back
- Weakness or paralysis in the legs and feet
- Loss of bladder or bowel control
- Deformities of the spine, hips, or feet (e.g., scoliosis, clubfoot)
- Hydrocephalus, often associated due to Arnold–Chiari II malformation
- Skin changes over the lower back (dimple, hair tuft, or discoloration) in mild forms
Diagnosis
Prenatal diagnosis is possible through:
- Maternal serum alpha-fetoprotein (AFP) screening
- Fetal ultrasound, which detects spinal or cranial abnormalities
- Fetal MRI for detailed anatomical evaluation
Postnatal diagnosis is confirmed by spinal MRI to assess the level of defect and involvement of neural structures. Brain MRI is performed to evaluate associated hydrocephalus or Chiari malformation. Functional assessments of leg movement and bladder function are also part of the initial evaluation.
Treatment Options
- Surgical Closure (Postnatal Repair): Performed within the first 24–48 hours after birth, surgery involves closing the spinal defect to protect the exposed nerves and reduce infection risk. The neural tissue is gently repositioned inside the spinal canal, and the dura, muscle, and skin are reconstructed in layers. Early closure prevents further neurological deterioration and infection.
- Fetal (In-Utero) Repair: In selected cases, the defect can be repaired during pregnancy (between 20–26 weeks of gestation) via open or minimally invasive fetal surgery. This approach has shown improved motor outcomes and reduced need for ventriculoperitoneal shunt placement after birth. It is performed in specialized centers with high maternal-fetal expertise.
- Management of Associated Hydrocephalus: Many children with myelomeningocele develop hydrocephalus, which may require ventriculoperitoneal (VP) shunt placement or endoscopic third ventriculostomy (ETV). Regular follow-up and imaging ensure early detection and management of increased intracranial pressure.
- Orthopedic and Urologic Rehabilitation: Post-surgical care focuses on functional improvement:
Physical therapy to strengthen leg muscles and prevent contractures
Orthopedic interventions for deformities
Bladder and bowel management using catheterization, medications, or reconstructive surgery
Occupational therapy to promote independence in daily life - Long-Term Multidisciplinary Care: Children with spina bifida benefit from ongoing follow-up by a neurosurgeon, urologist, orthopedic surgeon, physiotherapist, and rehabilitation team. Psychological and social support are also key for education and integration into daily life.
Recovery & Follow-Up
After closure surgery, infants typically stay in the hospital for 7–10 days for wound healing and hydrocephalus monitoring. Physiotherapy begins early to preserve mobility. Regular MRI follow-ups help detect tethered cord, shunt malfunction, or scoliosis. With coordinated multidisciplinary care, most children achieve good developmental progress and quality of life.
When to See a Pediatric Neurosurgeon
If prenatal imaging shows spinal or brain abnormalities, or if your newborn has a visible back defect or weakness, early referral to a pediatric neurosurgeon is essential. Prompt surgical closure and follow-up significantly improve outcomes and prevent complications.