What are congenital brain and spine malformations?

Congenital abnormalities, called malformations, are conditions affecting the form and function of the nervous system.

There are numerous variations of congenital malformations of the bone and soft tissue of the head and spine, including neural tube defects, such as spina bifida, encephaloceles, Chiari malformations and arachnoid cysts.

Some congenital malformations are mild, and some are severe but correctable with surgery by a pediatric neurosurgeon.

Types of Congenital Brain and Spine Malformations

Chiari Malformations

This is a condition in which portions of the brain — the cerebellar tonsils — protrude through the bottom opening of the skull into the upper spine, which can put pressure on the brain or spinal cord. Chiari malformations may block the flow of cerebrospinal fluid, leading to hydrocephalus.

Treatments often focus on removing portions of the bone and soft tissue to relieve pressure on the spinal cord and brain, as well as providing new pathways to drain cerebrospinal fluid. Surgeons have several different methods for treating these malformations, including decompression, with or without duraplasty (opening the dura, the thick membrane covering the brain).

Encephaloceles

Encephaloceles are a type of neural tube defect characterized by the brain being exposed to the outside instead of being covered by the skull and skin. It can lead to infections and hydrocephalus.

Surgical treatment of this condition involves removing bone and soft tissue, draining cerebrospinal fluid, and surgically repairing or closing the encephalocele.

Children who have developed hydrocephalus as a result of an encephalocele will require treatment for that condition, often with a cerebrospinal fluid shunt. Shunting is the placement of a tube into the open area (ventricle) of the brain that allows cerebrospinal fluid to drain to the child’s abdomen or other location where it can be safely reabsorbed into the body.

Arachnoid Cysts

Arachnoid cysts  are the most common type of brain cyst. They are congenital (present at birth) lesions that occur as a result of the splitting of the arachnoid membrane. The cysts are fluid-filled sacs, not tumors, appearing in one of the three layers of tissue covering the central nervous system.

Surgical treatment of this condition involves draining the cyst by drilling a small hole or by opening the skull and making small openings in the cyst to open the natural fluid pathways in the brain (fenestrating).

Diagnosis of Congenital Brain and Spine Malformations

If a child is born with any of the above malformations, a thorough evaluation by a pediatrician or neurologist is needed to diagnose the problem and recommend a plan for addressing it.

After a thorough physical and detailed family and patient history, your doctor may order imaging of the brain and/or spine through an MRI scan. If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan.

Congenital Brain and Spine Malformations: Treatment

A multidisciplinary approach is often beneficial for addressing children with congenital brain and spine malformations. Neurosurgeons, craniofacial plastic specialists and geneticists, among others, may be called upon to develop your child’s treatment plan and determine what kind of surgery may be appropriate.

If a congenital brain or spine malformation is mild and not causing any signs or symptoms in your child, the neurosurgeon may recommend observation, which means regular visits and testing to monitor your child’s condition.

If your child does undergo surgery, follow-up care is extremely important in tracking the progress of your child’s recovery. Your pediatric neurosurgeon will schedule follow-up appointments to ensure your child is making the best recovery possible.