CONGENITAL SPINE ABNORMALITIES

Congenital spine abnormalities are spinal abnormalities identified during pregnancy, at birth, sometimes during early childhood and rarely in early adulthood.

 

They may result -  

  1. Due to neural tube defects e.g. Spina Bifida as in meningocoele or myelomeningocoele or Spina bifida occulta where the defect is not obvious on the skin.

    • Myelomeningocele is a type of spina bifida where the coverings of the spinal cord is deficient and there is a herniation of the dural sac and some neural elements through the defect in the bone, muscle and the skin to present as a cystic swelling in the midline of the back. Though these are most common in the lower lumbo-sacral spine it can be present in the thoracolumbar spine and even in the cervical spine. In most cases surgery has to be done as early as possible after birth especially if the skin cover is very thin or lacking all together. Rupture of this fluid filled sac containing CSF could lead to meningitis.

    • There may also be tethering of the cord (Tethered cord syndrome) from a variety of associated conditions like lipomyelomeningocoele, diastematomyelia, thickened filum terminale etc.  This will cause stretching of the cord, because of the tethering, as the child grows, resulting in neurological impairment. 

  2. Due to failure of two or more vertebrae to fully separate and divide. e.g congenital scoliosis, congenital kyphosis, congenital lordosis and Klippel- Feil syndrome.

  3. Due to failure of formation: also resulting in congenital Scoliosis, kyphosis and lordosis.

 

 A lot of factors such as environmental factors, gender, genetic factors, folic acid deficiency, obesity, diabetes, chemicals and drugs, singly or in combination, have been implicated in the development of congenital abnormalities during the embryonic period.

 
SYMPTOMS
  • Cutaneous markers: like a patch of hair, dimple or sinus, pale or hyper -pigmented patch (discoloration), a skin tag or tail in the midline of the back are all indicators of underlying spinal abnormality (dysraphism).

  • Neurological problems: Back and/or leg pain with weakness of any or all the four limbs with bowel and bladder dysfunction may be an indication of cord tethering or other abnormalities developing like syringomyelia (cyst formation within the cord).

  • Skeletal deformities:  A child with spina bifida may also have leg and foot abnormalities - eg, abnormal hips, unequal leg length or clubfeet. This will result in abnormal gait further aggravating back pain.

  • Urorectal disturbance: Weak sphincters of bowel and bladder will lead to incontinence and dyssynergia between the bladder muscle and sphincter by causing raised urine back pressure, may eventually effect the kidneys, if untreated

 
INVESTIGATIONS
  1. Ultrasound: Prenatal (before birth) diagnosis can be made using ultrasound. It is therefore important to get an ultrasound at regular intervals during pregnancy by an experienced ultra-sonographist or fetal medicine expert.

  2. MRI of the spine shows the spinal cord, the nerve roots arising from it, the vertebra and the discs. MRI will show any defect in the spinal cord or its coverings, the level the cord ends, and any tethering of the cord by a bony spur or ligament. It will show any split in the spinal cord or any cavitation developing within the spinal cord (syringomyelia).

  3. X-Ray of the spine shows the vertebra, their alignment, it’s curvature and any bony defect, if present.

  4. CT scan of the spine is done in certain cases where, after MRI and X-ray, some more information is required by the surgeon. This can also be done with contrast material injected into the spinal canal in a procedure called CT myelography. This is helpful in cases of cord tethering, particularly by a bony spur or split cord (diastematomyelia) and syringomyelia.

  5. Electromyography (EMG) / Nerve conduction test (NCV) is an electro-physiological test of the limbs that is done in certain cases and largely used for intra-operative monitoring.

TREATMENT OPTIONS

Surgical Management - Treatment involves excision of the meningocoele and detethering (releasing) of the spinal cord / nerve roots from tissue, ligament or bone, which is tethering the cord, to improve neurological function, relieve pain, or to prevent neurological worsening as the child grows. Foot deformities, if present require orthopedic correction.

 
 
 

Disclaimer : The information on this site is not intended or implied to be a substitute for professional medical advice, diagnosis or treatment. All content, including text, graphics, images and information, contained on or available through this web site is for general information purposes only.

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