Pfeiffer Sydrome: Physical Traits

The Brain:
Inside the brain are areas called ventricles, which are filled with cerebral spinal fluid.  These ventricles could be thought of as little lakes inside the head, which are connected to each other by small streams.  Occasionally, these ventricles become filled with too much fluid.  Most children with Pfeiffer syndrome have ventricles that are larger than normal.  No treatment is required for this enlargement, unless a pediatric neurosurgeon determines that the enlargement is associated with an increased pressure.  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 option, currently under investigation, is a third ventriculostomy, which opens up a connecting pathway between ventricles.  It is important that the ventricles be closely monitored to make sure that they are not causing too much pressure on the brain, which could impair development.

Another condition that is likely to occur, and is very important to screen for, is called cerebellar tonsillar herniation, or an acquired “Chiari” malformation.  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 children need to undergo frequent screening for cerebellar tonsillar herniation, and in Dallas we are now screening into adulthood.  The development of this condition may reflect an increase in intracranial pressure signaling the need to enlarge the skull in order to create more room (see publications #18, 2001).  Unfortunately, this condition is difficult to assess on routine CT scans, and is best evaluated with a specialized CT, or even better, an MRI.  At our center in Dallas, we prefer to avoid CT scans because of our concerns about the small radiation doses to the growing brain, and because MRI scans are better overall for evaluating the brain.  This should be discussed with either your craniofacial surgeon or pediatric neurosurgeon.  In a recent study (see Publication #32) of all patients treated with Pfeiffer syndrome in Dallas, almost 85% developed a Chiari malformation (100% of our Type II and III patients).  Chiari malformations without symptoms do not necessarily need treatment, and typically, we recommend only treating those that cause symptoms.  These symptoms include: difficulty swallowing, coordination issues, cough headaches, central sleep apnea (which can only be diagnosed with an overnight sleep study), and the development of a syrinx (which looks like a river of fluid in the center of the spinal cord).  There are a number of issues associated with different treatment options for decompressing a Chiari malformation, such as the need to avoid abnormally large veins that exit the back of the skull.   Sometimes it may be better to simultaneously enlarge the back part of the skull when the Chiari is decompressed.  Once again, these issues need to be discussed with your doctor.  Parents may wish to seek treatment at centers specializing in treating these medical problems.

Raised intracranial pressure is a concern for all Pfeiffer children, until at least their teenage years, and maybe beyond.  Children with Pfeiffer syndrome may have larger brains.  As these brains are growing, the skull is not able to keep up with this growth because of the fused sutures.  As a result of this lack of growth, the skull needs to be enlarged with surgery (see Treatment, skull).  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-ophthalmologist evaluate the optic discs (checking for raised pressure by looking through the pupils of the eyes), following head circumference measurements to monitor growth, checking MRI scans and comparing them to previous scans, looking for signs such as headaches or vomiting, and watching overall development, just to name a few.

Most children with Type I Pfeiffer syndrome have normal developmental and intelligence.  Developmental delays are more common in Types II and III.  I believe that the multiple hospitalizations and surgical procedures these children endure, might play a role in this observed developmental delay, although certainly there are other factors at work (sleep apnea, central wiring problems, and others).  The most important things to monitor for are raised intracranial pressure and sleep apnea.  I believe that the most important things that doctors can do to help children to realize their full potential is to ensure that their patients to not have chronic elevations in intracranial pressure, and that they do not have significant sleep apnea.  I also recommend that parents challenge their child to develop to his or her fullest.

Other Pfeiffer Syndrome Physical Traits:
Skull | Eyes & Midface | Ears | Mouth | Hands & Feet
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