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General Surgery · CHAPTER 16. CONGENITAL MALFORMATIONS

Spine and spinal cord malformations

Spina bifida

Spina bifida is a group of anomalies characterized by the incomplete closure of the vertebral canal. This central canal defect creates conditions for the herniation of the meninges, nerve roots, and the spinal cord itself, subsequently leading to the formation of a spinal hernia.

Core of the defectIncomplete closure of the vertebral canal
Hernia localizationThe lumbar region is most commonly affected
MarkersCutaneous stigmata are characteristic of the occult form of spina bifida
TreatmentHernial forms require surgery during infancy
3 min readFor medical studentsUpdated Sep 25, 2026
Material prepared by WhiteCoat Pro editorial team based on platform study guidesReviewed by medical editor: Aulov A. A., general practitioner · 09/24/2026

Complete spinal dysraphism

This variant of pathology is the most severe clinical form. The arch defect is observed over a significant length of the vertebral column.

  • As a rule, the anomaly is not isolated and is combined with other severe developmental malformations.
  • Due to the massive lesion and associated disorders, infants with complete dysraphism are non-viable.

Partial vertebral arch defect (hernial form)

This form involves the formation of a hernial protrusion, most commonly localized in the lumbar region.

Examination and physical findings: Visually, the hernia appears as a rounded protrusion with an elastic consistency. The skin over the formation is severely thinned. Palpation often reveals the fluctuation sign, indicating the presence of fluid in a closed cavity.

Contents of the hernial sac:

  • Cerebrospinal fluid.
  • Spinal cord tissues.
  • Elements of the cauda equina.

Neurological symptoms: The involvement of neural structures in the hernial sac leads to severe neurological deficits. Innervation of the lower extremities is primarily affected. In addition, pelvic organ dysfunctions develop, clinically manifested by urinary and fecal disorders.

Diagnosis and treatment: X-ray imaging is used to precisely determine the localization of the defect and assess the extent of the cleft. Treatment for this form is exclusively surgical, and the intervention should be performed during infancy.

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Spina bifida occulta

The feature of this form is the absence of a visible protrusion of the meninges (no hernia is formed). Very often, the pathology is completely asymptomatic and may be an incidental finding.

Cutaneous stigmata: Occult spina bifida can be suspected by specific skin changes in the lumbar region. These include:

  • Enhanced local hair growth (hypertrichosis).
  • Pigmentation and birthmarks.
  • Angiomas.
  • Dermoids.

Complications and treatment: Despite its occult course, the anomaly can cause serious delayed consequences. Potential complications include nocturnal enuresis, the development of clubfoot or equinovarus deformity, and in severe cases, lower limb paralysis. Treatment for the occult form is symptomatic.

Briefly: answers to topical questions

What instrumental research methods are used for the comprehensive diagnosis of spina bifida?

For the comprehensive diagnosis of spina bifida and associated anomalies, radiologic and ultrasound imaging methods are used.

  • X-ray imaging is used to clarify the location and assess the extent of the bony spinal defect.
  • Ultrasonography (ultrasound) is used as part of prenatal screening (in the 1st trimester) to visualize gross developmental malformations, including meningocele and large spinal hernias.
How to memorize

To remember the clinical forms, the "visibility" rule can be applied: complete dysraphism is incompatible with life, partial is visible as a hernia, and occult reveals itself only through cutaneous stigmata in the lumbar region.

Class and exam questions

What fluid is contained within a spinal hernia in partial rachischisis?

The cavity of the hernial sac contains cerebrospinal fluid, as well as elements of the spinal cord and cauda equina.

Which method is used to determine the extent of the defect?

X-ray imaging is used to determine the location and extent of the spinal cleft.

Can there be motor disturbances of the legs in the occult form?

Yes, among the possible complications of spina bifida occulta are foot deformities (clubfoot, equinovarus deformity) and even lower limb paralysis.

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What else to study on this topic

  • Mechanisms of pelvic organ dysfunction (defecation and urination) in spinal hernias.
  • Topography and functions of cauda equina elements involved in the hernial protrusion.
  • Pathogenesis of clubfoot and equinovarus deformity development in spina bifida occulta.
  • Surgical management strategy for partial vertebral arch defects in infancy.
  • Types and morphological characteristics of cutaneous stigmata (dermoids, angiomas) in the lumbar region.

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