Chromosomal and Genetic Conditions
Chiari Malformation Symptoms and Diagnosis
Symptoms of a Chiari Malformation
Children with Chiari I malformations may start to have symptoms as early as age 2 or 3. Some don't have any symptoms until they are older.
Symptoms can appear any time. They may start or get worse after a trauma, physical effort or straining, such as exercising, coughing or sneezing.
If your child has symptoms, they may have one or more of these:
- Headaches in the back of the head or headaches that get worse with straining (Valsalva maneuvers)
- Balance problems, which may cause trouble walking
- Neck pain
- Pain or tingling in their arms
- Quick eye movements they can't control, often from side to side (nystagmus)
- Trouble with small (fine) motor tasks, such as writing or cutting with scissors
- Swallowing problems or decreased gag reflex
- Sleeping problems due to sleep apnea
Symptoms of a Chiari II malformation can be the same as symptoms of a Chiari I malformation. But with a Chiari II malformation the symptoms are usually worse and start sooner. Children with a Chiari II malformation may also have one or more of these symptoms:
- A high-pitched sound when breathing in (stridor), mainly when crying
- Breathing tiny bits of food, fluid or saliva into the lungs (aspiration)
- Arm weakness, numbness and tingling
A child may also have other symptoms that may be caused by syringomyelia.
Chiari Malformation Diagnosis
Because a Chiari I malformation doesn't always cause symptoms, doctors may find it while they are examining your child for something else. They may find it when your child has a CT (computed tomography) scan or MRI (magnetic resonance imaging) scan for another reason.
In babies with a Chiari II malformation and spina bifida, doctors do imaging scans of the baby shortly after birth and find the Chiari malformation then.
If doctors think your child might have a Chiari malformation, they will examine your child. They will check:
- Motor skills
- Sense of touch
Doctors also use MRI scans of the head and spine to look for Chiari malformations. These scans let doctors see whether the bottom part of your child's cerebellum (cerebellar tonsils) or brainstem is coming down into the space where the spinal cord enters the spine (cervical spinal canal). The scans can also give doctors an idea of whether pressure is being put on your child's cerebellum, brainstem or spinal cord. Often doctors order an MRI of the spine to check for syringomyelia, too.
Your child's doctors may use a test called a cine-MRI (or cine MRI CSF flow study) to see how cerebrospinal fluid (CSF) moves around the lower part of your child's brain. Cine-MRI is a movie made from a series of MRIs. ("Cine" is pronounced SIN-nee, much like the word "cinema.") This special MRI takes pictures of structures (anatomy) inside the body, such as the bones and brain. It also captures some details about how the body works (physiology), such as how CSF flows.
Cine-MRI helps doctors decide who may need which type of surgery, and it helps them tell how a child is doing after surgery. Not all MRI facilities can do a cine-MRI. It requires special computer software. To understand the scan, doctors need experience viewing images from this form of MRI. They also need to know how to interpret the images.