Spina Bifida (Myelomeningocele - MMC)

Congenital spinal and spinal cord developmental disorder - Early surgery is critical

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Pediatric Neurosurgery

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1Overview

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What is this Condition?

Spina bifida is a congenital developmental disorder that occurs when the spinal canal fails to close completely during fetal development, and a portion of the spinal cord and surrounding membranes protrude outward (herniate). The most severe form is myelomeningocele (MMC); in this condition, the spinal cord and nerves are exposed and cause nerve damage. In milder forms, the spinal cord does not protrude and often causes no symptoms. MMC most commonly occurs in the lumbar and thoracic regions and is frequently associated with accumulation of cerebrospinal fluid (hydrocephalus) and another developmental abnormality in the cerebellum-brainstem region (Chiari malformation). Depending on the level of nerve damage, patients may experience leg weakness or paralysis, urinary and bowel incontinence, foot and spinal deformities, and developmental delay. The most important risk factor is folic acid (a B vitamin) deficiency before and during early pregnancy; folic acid supplementation started before conception significantly reduces this risk. Emergency closure surgery performed within the first 1-2 days after birth helps prevent infection and additional spinal cord damage. In selected cases, in utero surgery may also improve developmental outcomes.

Symptoms

An open wound or fluid-filled sac on the lower back (myelomeningocele sac)

Leg weakness or paralysis (depending on the level of nerve damage)

Urinary and fecal incontinence (impaired bladder and bowel control)

Foot and leg deformities (clubfoot, foot drop)

Loss of sensation below a certain level (decreased touch and temperature sensation)

Signs of brain fluid accumulation (head enlargement, bulging fontanelle, vomiting)

Symptoms related to cerebellum-brainstem developmental abnormality (swallowing difficulties, breathing problems, stridor)

Spinal curvature

Latex allergy - may develop due to repeated surgeries and catheter use

Developmental delay and learning difficulties (may be related to brain fluid accumulation)

Diagnosis Methods

Spina bifida can be diagnosed both prenatally (before birth) and postnatally (after birth). Prenatal diagnosis: At 16-20 weeks of gestation, elevated alpha-fetoprotein levels in maternal blood may raise suspicion. Detailed prenatal ultrasound may show the spinal opening. If necessary, fetal MRI is performed to evaluate developmental abnormalities in the brain. Postnatal diagnosis: Physical examination reveals an open area on the back, a fluid-filled sac, or skin findings such as hair or dimpling. Neurological examination determines the level of involvement. Spinal MRI shows the spinal cord structure. Brain imaging evaluates fluid accumulation and developmental abnormalities in the brain. Tests measuring bladder function are also performed.

Treatment Methods

Treatment of spina bifida requires collaboration among multiple specialties (neurosurgery, urology, orthopedics, physical therapy, child development). Within the first 1-2 days after birth, the exposed spinal cord and nerves are protected and the back is urgently closed; this early surgery reduces the risk of infection and additional spinal cord damage. If fluid accumulates in the brain, a tube system (shunt) is placed to divert excess fluid to another part of the body. If the cerebellum-brainstem developmental abnormality causes symptoms (swallowing difficulties, breathing cessation, stridor), surgery for this condition may be necessary. Bladder management includes intermittent catheterization (clean intermittent catheterization), appropriate medications, and regular urology follow-up. Bowel management includes dietary modification, medications if needed, and a regular program. Foot and spinal deformities may require orthopedic surgery. Physical therapy and rehabilitation include gait training, supportive braces (orthoses), and wheelchair use if necessary. In selected cases, surgery performed in utero at 19-25 weeks of gestation can reduce the need for shunting and improve motor function; however, this carries risks of premature delivery and complications for mother and baby. These patients require lifelong regular and multidisciplinary follow-up.

Postnatal MMC Closure Surgery (within first 1-2 days)

In Utero (Prenatal) MMC Repair Surgery (at 19-25 weeks gestation)

Shunt (Tube System) Placement - for brain fluid accumulation

Cerebellum-Brainstem Region Decompression (in symptomatic cases)

Intermittent Catheterization and Bladder Management

Orthopedic Surgery (feet, spinal curvature, hips)

Physical Therapy, Rehabilitation and Supportive Braces (Orthoses)

Multidisciplinary Follow-up and Developmental Support

Treatment Path

Related Treatments

The procedures and interventions most commonly explored with this condition.

4 links

Craniosynostosis Surgeries

Craniosynostosis Surgeries procedure

Open treatment detail

Fronto-Orbital Advancement

Fronto-Orbital Advancement procedure

Open treatment detail

Calvarial Reshaping

Calvarial Reshaping procedure

Open treatment detail

Oksipitoservikal posterior dekompresyon + duraplasti

Oksipitoservikal posterior dekompresyon + duraplasti procedure

Open treatment detail

Editorial Notes

References

Greenberg MS. Handbook of Neurosurgery. 10th ed. Thieme; 2023.
Winn HR, ed. Youmans and Winn Neurological Surgery. 6th ed. Elsevier; 2011.
Di Rocco C, Pang D, Rutka JT, eds. Textbook of Pediatric Neurosurgery. Springer; 2020.

This content is for informational purposes and based on academic sources; consult your physician for diagnosis and treatment.

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Spina Bifida (Myelomeningocele - MMC)

Pediatric Neurosurgery

1Overview

What is this Condition?

Symptoms

Diagnosis Methods

Treatment Methods

Related Treatments

Craniosynostosis Surgeries

Fronto-Orbital Advancement

Calvarial Reshaping

Oksipitoservikal posterior dekompresyon + duraplasti

Related Blog Posts

Spina Bifida (Myelomeningocele): Prevention and Modern Treatment

References

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Related Treatments

Craniosynostosis Surgeries

Fronto-Orbital Advancement

Calvarial Reshaping

Oksipitoservikal posterior dekompresyon + duraplasti

Related Blog Posts

Spina Bifida (Myelomeningocele): Prevention and Modern Treatment

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