Chiari Malformation

Diagnosis & Treatment of Chiari Malformation

The Department of Neurosurgery at Rutgers Health and RWJBarnabas Health treats Chiari malformation, a rare structural defect of the base of the skull which causes brain tissue of the cerebellum to extend downward into the upper part of the spinal canal. Usually present at birth, it is the result of an abnormally small or misshapen skull pushing the cerebellum downwards. Because the cerebellum is the part of the brain controlling balance, those with Chiari malformations may experience trouble walking.

Our Pediatric Neurology and Neurosurgery Program treats children with Chiari malformations using a multidisciplinary approach. A variety of pediatric specialists will help with your child’s treatment and monitor their progress.

Chiari Malformation Symptoms

Signs and symptoms of Chiari malformation vary greatly and depend on type. Chiari malformation is categorized into three types based on the anatomy of the brain tissue pushed into the spinal canal and whether other brain or spinal abnormalities are present.

The majority of those affected with Chiari malformation never experience symptoms, but increased use of imaging tests has led to more frequent diagnoses of the condition. Those who display no symptoms usually do not require treatment. For those who display symptoms, frequent headaches are the most common complaint.

Chiari Malformation: Type 1

Type 1 usually appears by late childhood, but it may go unrecognized until adolescence or adulthood. For this reason, Type 1 is sometimes called adult Chiari malformation. Usually it is not associated with any neurological abnormalities.

Symptoms of Type 1 Chiari malformation may include:

  • Frequent, severe headaches

  • Neck pain

  • Muscle weakness or numbness

  • Difficulty walking and balancing

  • Dizziness

  • Nausea and vomiting

  • Insomnia

  • Fine motor skill and hand coordination problems

Chiari Malformation Type 2

Type 2 usually is noted by a pregnancy ultrasound but may also be diagnosed shortly after a baby is born. It occurs almost exclusively in patients with a form of spina bifida called myelomeningocele, a potentially life-threatening neurological disorder found in those born with severe spina bifida. Type 2 Chiari malformation defects are related to a congenital condition in which the spinal cord and column protrudes from the back after not closing properly during fetal development. Apart from the obvious external symptom of a bulge of tissue protruding from the back, there are other common symptoms of Chiari malformation Type 2.

Symptoms of Chiari malformation Type 2 include:

  • Alternation in breathing patterns and apneas (periods where breathing stops)

  • Swallowing problems from a depressed gag reflex

  • Lack of arm strength

  • Involuntary, quick downward eye movements

Chiari Malformation Type 3

The most severe and rarest form of Chiari malformation is Type 3, where a portion of the cerebellum or the brainstem extends through an abnormal opening in the back of the skull. Usually this form of Chiari malformation is diagnosed during a routine pregnancy ultrasound or at birth. There is a higher mortality rate for this type of Chiari malformation, and it can cause neurological problems.

Spina bifida is common in type 3 Chiari malformation, as well as hydrocephalus. Hydrocephalus is an accumulation of excess fluid within the brain. Most babies with hydrocephalus have an abnormally large head.

Chiari Malformation Diagnosis

Several tests can help diagnose Chiari malformation, apart from reviewing a medical history and conducting a physical examination. Sometimes a Chiari malformation is evident in an ultrasound image before birth.

Tests to confirm a diagnosis of Chiari malformation include imaging studies. Magnetic resonance imaging (MRI) and computerized tomography (CT) scans are commonly used to diagnose Chiari malformation. These safe, painless tests produce images of the structures to detect any abnormalities, and can be repeated over time to monitor the progression of the disorder.

Chiari Malformation Treatment

Medical treatment for Chiari malformation is best undertaken by a multidisciplinary team of specialists, including pediatricians, neurologists, neurosurgeons, ophthalmologists, and other health care professionals to comprehensively design the best treatment plan.

Many patients with Chiari malformation do not need treatment if they display no symptoms. The benefits of surgery should be carefully weighed against any risks. If the patient has no discernible symptoms from Chiari malformation, then it is better left alone, as there is no guarantee surgery will produce any positive result.

Patients with Types 2 and 3 are more likely to require craniectomy surgical care, which is often the first-line treatment to alleviate symptoms and to give the cerebellum more space and take pressure off the spinal cord. Surgery can also re-establish normal fluid circulation in the affected area where the defect is.

Posterior Fossa Decompression Surgery

The posterior fossa is the cavity near the base of the skull where the Chiari malformation can be found. Our pediatric neurologists and neurosurgeons use a craniectomy surgical procedure called posterior fossa decompression as an effective treatment to reduce pressure and stop the progression of anatomical changes of the brain and spinal canal. During surgery, a skilled pediatric neurosurgeon will remove a small section of bone in the back of the skull to relieve pressure and give the brain more room. The surgeon may also remove a small portion of the patient’s spinal column to allow more space for the spinal cord.

Other Treatments

Many patients with Chiari malformation also present with hydrocephalus, spina bifida, and spinal curvatures. Chiari malformation may be secondary to these conditions and cause further neurological impairments.

Request an appointment online now or call 833-656-3876.