Weill Medical College of Cornell University

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Congenital Malformations of the Head and Spine

Pediatric neurosurgeons can correct a variety of malformations of the bone and soft tissue of the head and spine:

Encephaloceles is a condition in which the skull does not close completely resulting in protrusion of brain tissue through the skull in a sac. Encephaloceles can lead to infections and hydrocephalus. Surgical treatment of this condition involves removing bone and soft tissue or drainage of CSF. See a CME presentation about Hydrocephalus and Skull Lesions in the Pediatric Population.

Spina bifida is a malformation of the bones (vertebrae) and/or skin surrounding the spine that may include improper spinal cord development, potentially leading to serious infections, problems with bladder and bowel function, hydrocephalus, and paralysis. Spina bifida is generally classified into two main categories, open neural tube (spina bifida aperta) and closed neural tube (spina bifida occulta) defects. In severe cases of open neural tube defect (myelomeningocele), the spinal cord may not be a tube at all but an open plate and/or may protrude through the vertebrae. Most forms of these defects are variations of spina bifida occulta with normal neurological function. The most reason these malformations are encountered is due to abnormal skin markings on the skin overlying the spine. Subtle neurological injury can be manifested as urologic dysfunction including incontinence and frequent urinary tract infections. Surgery is intended to avoid some of the resultant complications of spina bifida, including tethered spinal cord, infection, scoliosis.

Tethered spinal cord is a condition in which the spinal cord is pulled down and attached to the spinal canal, and in which the spinal cord is normally free-floating. Failure to detect a tethered spinal cord can result in progressive nerve damage, weakening of leg muscles, back pain, and loss of bladder and bowel control. Tethered spinal cord can be diagnosed through the detection of certain skin abnormalities along the midline of the back. Diagnosis may be confirmed by magnetic resonance imaging (MRI), and surgery is usually indicated to prevent serious neurological damage.

Chiari malformation is a condition at the back of the head near the site where the spine connects with the brain. This connection happens within an opening of the skull called the foramen magnum. When parts of the brain, specifically the cerebellum are forced through this opening, pressures in this area are abnormally high. See our complete section on Chiari malformation.