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Congenital Malformations of the Brain and Spine

What is a congenital malformation?

Congenital abnormalities, called malformations, are conditions that are present at birth (congenital). 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. Some congenital malformations are mild and some are severe but correctable with surgery by a pediatric neurosurgeon.

Types of congenital malformations

Other congenital malformations of the brain and spine include:

Chiari malformation – This is a condition in which portions of the brain, the cerebellar tonsils protrude, into the upper spine, compressing the brain or spinal cord. Left untreated, this condition can lead to:

  • Neck pain
  • Hoarseness
  • Upper-respiratory tract infections
  • Progressive weakness of the arms and legs

Chiari malformation also may block the flow of cerebrospinal fluid (CSF), 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 CSF.

Encephaloceles – This condition is similar to chiari malformation but affects the brain or cerebrospinal fluid the between the nose and the front or back of the head. It can lead to infections and hydrocephalus. Surgical treatment of this condition involves removing bone and soft tissue or drainage of CSF.

Arachnoid Cysts – Arachnoid cysts are the most common type of brain cyst. They are congenital 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, called a burr hole, or by opening the skull and fenestrating the cyst directly (this involves making small openings in the cyst to open the natural fluid pathways in the brain). While the first method is minimally-invasive, the second insures that optimal pathways for CSF flow are created.

How is a congenital malformation diagnosed?

If a child is born with any of the above malformations, a thorough evaluation by a pediatrician or neurologist is needed to diagnose the root of the problem.

  1. Your doctor will conduct a thorough physical and will ask for a detailed family and patient history.
  2. Your doctor may order imaging of the brain and/or spine through an MRI. If the MRI shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan.
  3. Depending on the malformation, additional specialists may be asked to get involved in developing the treatment plan.

Treatment for congenital malformations

The Johns Hopkins difference involves multiple specialties in reviewing the cases of children with congenital brain and spine malformations. Neurosurgeons, craniofacial plastic specialists, geneticists, among others, join together to develop the treatment plan. The team will decide if surgery is the best option.

Learn more about our multidisciplinary care.

Surgery for congenital malformations

The purpose of surgery is to correct the physical formation and maximize the functionality for the child to prevent development of neurological deficits.

For Chiari malformations:

Surgeons have several different methods for treating these malformations. These methods may include:

  • Decompression
  • Decompression with duraplasty (opening the dura, the thick membrane covering the brain)
  • Shrink the cerebellar tonsils, which may be blocking the flow of spinal fluid

For Encephaloceles:

  • Treatment involves the surgical repair or closure of the encephalocele.
  • Some patients may also develop hydrocephalus as a result and will require treatment for hydrocephalus.

For Arachnoid Cysts:

Treatment may consist of:

  • Observation
  • Fenestration (this involves making small openings in the cyst to open the natural fluid pathways in the brain)
  • Endoscopic fenestration (this involves using a small scope to make these small openings to allow the fluid to better flow throughout the brain)
  • Shunting

After Surgery

Follow-up care is extremely important in tracking the progress of a child’s recovery. Your pediatric neurosurgeon will schedule follow-up appointments to make sure your child is making a full recovery. Learn more about our surgical expertise.


To request a consultation or make an appointment, please contact Johns Hopkins Pediatric Neurosurgery at 410-955-7337.

 
 
 
 
 
 

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