Crouzon Sydrome: Physical Traits

The Brain:
Inside the brain are areas filled with cerebral spinal fluid, called ventricles. One could think of the ventricles as little lakes, inside the head. Occasionally, these ventricles become filled with too much fluid. Most all children with Crouzon syndrome have ventricles that are larger than normal. Usually, no treatment is required for this enlargement. However, sometimes these ventricles get so large that they begin to "squish" the brain from the inside. In this case, a pediatric neurosurgeon might recommend placing a shunt, or tube, which goes from inside the ventricle and is tunneled under the skin down to the abdominal cavity in order to drain off the fluid. Typically, once a shunt is placed, the child requires one for the rest of his/her life.

Another condition that may occur is called cerebellar tonsillar herniation, or a Chiari malformation. This may occur in up to 70% of children affected with Crouzon syndrome, and it is very important to screen for this. The floor of the skull has a hole called the foramen magnum, through which the spinal cord exits. Sometimes, part of the brain called the cerebellar tonsils can get "pushed" down into this hole, like a cork in a wine bottle. If this happens there can be reduced flow of cerebral spinal fluid, and a child might develop a particular type of sleep apnea (this means that the child doesn't get enough oxygen while asleep) called central apnea. We believe that cerebellar tonsillar herniation should be checked for at least once a year until the child is grown. Data from our center (see publications [ #18, Dec 2001]) suggests that the development of this tonsillar herniation might be related to raised intracranial pressure. We believe that this sign may be an indication for advancing the forehead. Unfortunately, this condition is difficult to assess on routine CT scans, and is best evaluated with a specialized CT or an MRI. This should be discussed with either your craniofacial surgeon or pediatric neurosurgeon.

Raised intracranial pressure is a concern for all Crouzon children until teenage years. Children with Crouzon syndrome have bigger brains. As these brains are growing, the skull is not able to keep up with this growth, at least in part because of the fused coronal sutures. This condition means that the skull needs to be enlarged with surgery (see treatment below). It is very important that growing children be closely monitored by experienced physicians to make sure that the intracranial pressure is not getting too high. This monitoring is done a number of ways: having a pediatric neuro-opthalmologist evaluate the optic discs, following head circumference measurements, checking CT scans, and/or MRIs, looking for signs such as headaches or vomiting, just to name a few.

Other Crouzon Syndrome Physical Traits:
Skull | Eyes & Midface | Ears | Mouth
<<more about Crouzon Syndrome