Congenital Anomalies


Pediatric congenital spine abnormalities are disorders of the spine in children that develop before birth. The bones in the back (called vertebrae) do not form properly during very early fetal development. This causes structural problems in the spine and spinal cord. These abnormalities can range from mild to severe and may cause other problems if they remain untreated: such as problems with abnormal curvature of the spine and issues with breathing, walking, moving the arms and legs, going to the bathroom and/or pain.

A child may have one or more types of congenital spine abnormalities. Some of the more common types of congenital spine abnormalities cause abnormal spine alignment and can result in pain, loss of function of the arms and/or legs and restriction of breathing. These include:

  • Scoliosis: abnormal curvature or twisting of the spine to either side
  • Kyphosis: bowed or rounded back – spine bends forward
  • Lordosis: sway back – spine bends too far backwards

Other pediatric congenital spine abnormalities include:

  • Spina bifida – myelomeningocele or open neural tube defect In this condition, a baby is born with an open spinal cord that protrudes through a hole in the bones of the back. This causes a sac-like protrusion that is filled with fluid called a myelomeningocele or open neural tube defect. It is typically diagnosed prenatally on an ultrasound. It can be found anywhere along the spine but is more commonly found in the lower or lumbosacral spine. When a child is born with a myelomeningocele, they may have problems like leg weakness and sensation and bowel and bladder problems. They might also have other problems such as hydrocephalus, Chiari II malformation and orthopedic deformities of their lower extremities such as club feet. Shortly after birth, the baby is kept on their belly to prevent rupture of the sac and avoid trauma to the spinal cord. The sac is covered with sterile saline soaked gauze to prevent the exposed spinal cord from drying out. Antibiotics are given to decrease the risk of infection. A myelomeningocele is typically closed within 24 to 72 hours after birth or, in some cases, before birth. The goals of the surgical repair are to restore the nerve tissue to the spinal canal for protection, to close the protective membrane (dura) to help prevent a spinal fluid leak and to provide skin coverage for the defect.
  • Occult spinal dysraphism – closed neural tube defect This condition occurs during development from faulty secondary neural tube formation. In these types of defects, the membranous coverings of the spinal cord are abnormal, but the overlying skin is intact. They can be identified by markers on the skin such as a dimple or patch of hair. These defects cause tethering of the spinal cord, a condition where the spinal cord is stretched, and the movement of the spinal cord is limited. Most children have intact neurological function at birth and are brought to medical attention for evaluation of a superficial fatty bump or other skin abnormality. Tethering of the spinal cord can cause progressive neurological dysfunction with deficits in sensation, motor function and/or bowel/bladder function during periods of rapid growth and weight gain. Early prophylactic untethering is recommended for patients to stabilize neurological function and prevent irreversible neurological injury. Examples of these defects include:
    • tight or thickened filum terminale – a connective tissue band that attaches the end of the spinal cord to the end of the dural sac that contains the spinal cord and nerve root
    • fatty malformations, such as lipomyelomeningocele and fatty filum
    • split spinal cord malformation where the spinal cord is split into two halves by a piece of bone or tract of fibrous tissue
    • dermal sinus tract – epithelial-lined tract that extends from an opening on the surface of the skin to the tissues below the skin or all the way down to the spinal cord, can be found anywhere along the spine, and may be associated with drainage of CSF or tumors such as dermoids or epidermoids

Timely diagnosis and appropriate surgical intervention are key to preserving or improving neurological function. Surgery is performed using microsurgical technique with continuous monitoring of spinal nerve function.

Signs and Symptoms

Signs and symptoms of congenital spine abnormalities vary depending on a child’s specific condition but can include:

  • Pain
  • Numbness
  • Tingling
  • Difficulty walking
  • Difficulty sitting
  • Breathing problems
  • Bathroom issues (accidents, incontinence, constipation)
  • Infections
  • Abnormal curvature or twisting in the back, to either side, forward or backward
  • Uneven shoulders, waistline, hips or legs
  • Tilting of the pelvis

Potential Causes

The potential causes of the developmental defects responsible for congenital spine abnormalities remain unknown. However, the vertebrae in these disorders may be misshapen, fused together, partially formed or missing.


Diagnosis of congenital anomalies includes a physical exam by the neurosurgeon and/or orthopedic surgeon. Additional imaging tests may be ordered including computed tomography (CT), magnetic resonance imaging (MRI) and a scoliosis survey, which shows how the spine aligns when your child is in an upright position. If your child is diagnosed with tethered spinal cord, the neurosurgeon may recommend a consultation with a urologist to evaluate bladder function.

Treatment Options

Treatment aims to reduce pain, restore function and correct harmful abnormalities. Your child’s prognosis will depend on the severity of his or her condition. Treatment options include:

  • Bracing Some children with scoliosis respond well to the use of a temporary brace which keeps the spine in alignment as the child grows
  • Surgery There are many types of surgery for congenital spine abnormalities:
    • Scoliosis Scoliosis correction focuses on relieving any pressure on the spinal cord and the nerves as well as establishing a ‘normal’ spine curve or alignment. The type and amount of surgery will depend on your child’s specific location and severity of spinal deformity.
    • Tethered spinal cord There are multiple options for surgically treating children with a tethered spinal cord. The surgery depends on the type of tethering lesion and whether it’s a first-time tethered cord or recurrent tethering. In the case of recurrent spinal cord tethering, the spine may be shortened and fused to relieve stress on the spinal cord and nerves. Alternatively, the nerves themselves may be freed by releasing them from scar tissue or fat or by releasing a tight and/or fatty filum in selected patients.

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