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Spina Bifida in Children

Spina bifida is a neural tube defect causing incomplete closure of the spine, with motor, urinary and bowel impairment depending on the lesion level.

Written by: Saygı Hospital Health Guide Editorial Board
Last updated:

This content has been compiled by the Saygı Hospital Health Guide Editorial Board and is periodically reviewed by a specialist physician.

References (5)

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Çocuk Sağlığı ve Hastalıkları department. Book Appointment →

What is Spina Bifida in Children?

Spina bifida is a congenital neural tube defect resulting from failure of complete closure of the posterior vertebral arches during the first 28 days of embryonic life.

There are three forms: spina bifida occulta (hidden, often asymptomatic, found incidentally), meningocele (meningeal sac without neural tissue) and myelomeningocele (sac containing spinal cord and nerve roots — the most severe form).

Myelomeningocele causes flaccid paralysis below the lesion level, neurogenic bladder and bowel, hydrocephalus (80%), Chiari II malformation, scoliosis and tethered cord syndrome.

Periconceptional folic acid supplementation (400 µg/day, 4 mg in high-risk pregnancies) prevents up to 70% of cases. Antenatal diagnosis by maternal serum AFP and ultrasound allows in-utero or postnatal repair planning.

Symptoms

Visible sac on lower back at birth (myelomeningocele or meningocele)
Hairy patch, dimple, lipoma or naevus over spine (occulta)
Flaccid lower limb paralysis with sensory loss
Neurogenic bladder: incontinence, recurrent urinary infections, vesicoureteral reflux
Neurogenic bowel: chronic constipation, faecal incontinence
Hydrocephalus: increased head circumference, bulging fontanelle, vomiting
Foot deformities (clubfoot, vertical talus), hip dislocation, scoliosis

Risk Factors

Maternal folic acid deficiency in periconceptional period
Maternal use of valproate, carbamazepine or methotrexate
Maternal diabetes mellitus and obesity
Maternal hyperthermia in early pregnancy
Family history (5% recurrence after one affected child)
Genetic syndromes (MTHFR mutations)
Lower socioeconomic status with poor maternal nutrition

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Antenatal screening: maternal serum AFP at 16–18 weeks, anomaly ultrasound
  • Newborn with visible sac requires immediate sterile dressing and neurosurgical referral
  • Postnatal urodynamic, renal ultrasound and orthopaedic evaluation in all cases
  • Recurrent urinary infections or hydronephrosis on imaging require urgent attention
  • Headache, vomiting or visual changes after VP shunt suggest shunt malfunction

Treatment Methods

01
Prenatal in-utero repair (MOMS trial) reduces hydrocephalus and improves motor function
02
Postnatal closure within 24–72 hours to prevent infection and further neural damage
03
Ventriculoperitoneal shunt for hydrocephalus (80% of cases)
04
Clean intermittent catheterisation, anticholinergics, botulinum toxin for neurogenic bladder
05
Bowel programme: dietary fibre, suppositories, antegrade continence enema (Malone procedure)
06
Orthotics, physiotherapy, mobility aids; orthopaedic correction of deformities
07
Multidisciplinary lifelong follow-up: paediatrics, neurosurgery, urology, orthopaedics, rehabilitation

Which Department to Visit?

You can visit our Çocuk Sağlığı ve Hastalıkları department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

Learn About Çocuk Sağlığı ve Hastalıkları Department

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You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.