Pfeiffer Sydrome: Treatment

Skull Surgery:
I believe that we have developed some innovative techniques at our center that have improved both the safety and the results of skull surgery.  All children undergo evaluation by the appropriate members of the craniofacial team: craniofacial surgeon, pediatric neurosurgeon, anthropologist, geneticist, psychologist, neuroradiologist, ENT, craniofacial nurse coordinator, a speech pathologist, and social worker if needed. The timing for the first skull operation varies significantly depending upon the type of Pfeiffer syndrome. Typically, we arrange for a pediatric ENT to evaluate the child in the operating room and place ear tubes at the same time as skull surgery, to reduce the total number of operations.  In general, surgery is performed between 6-12 weeks in the most severe subtypes, and around 15-months of age for the milder Type I children.  As the infant gets bigger, there is a decreasing likelihood that a blood transfusion will be necessary during the operative procedure; therefore, delaying may potentially increase the safety of the operation.  At our center, we routinely give children erythropoietin before surgery to raise the child’s blood levels, sufficient to hopefully prevent the need for blood transfusions (see Publications #19, 2002).  We also use a “cell-saver” to recycle some of the blood that is lost at surgery, so that it can be given back to the child (see Publications #22, 2004). Using this combination of techniques, most children (about 80%) do not require any blood transfusions.  We believe that reducing blood transfusions may also reduce the risks of serious complications.

At our center, operations on the skull are always performed with both a pediatric neurosurgeon and craniofacial surgeon present for the entire procedure.  Having two experienced surgeons present at all times improves the speed and safety of the operation.  In addition, only pediatric anesthesiologist’s with extensive craniofacial surgical experience are used.  The family is given hourly updates as to their child’s condition during the operation.  Typically, skull surgery takes under two hours, but the children are in the operating room for 4 to 4 ½ hours.  We do not shave any hair for surgery, although many centers still prefer to do so.  The skull is reached through an incision that extends from ear to ear across the top of the head.  Many years ago, I changed the typical straight-line incision to a wavy, “zigzag” incision.  I developed this wavy pattern incision because I noted that in those children left with a straight-line scar, when they get their hair wet it visibly parts on this straight-line scar (see publications #10, 1994).  Making the incision in a wavy pattern helps to better hide the scar, and many other craniofacial surgeons have now adopted this technique.

The purpose of the surgery is to remove the areas of skull that were affected by the fused suture and reposition the skull to allow the brain more room to grow.  It is not possible to surgically recreate a functioning suture, so it is important that the surgery can accomplish making a significant amount of room for the brain to grow. Surgeons use various techniques to hold the skull bones in place after moving them into position.  We have previously reported our findings concerning the use of metal plates and screws to hold the skull bones together at the end of the operation.  We found that when metal plates and screws were used, with subsequent growth of the skull, these plates will end up on the inside of the skull with the screws poking into the brain (see publications #12, 1995).  While I am not aware of any cases in which this has caused a problem, I have nevertheless chosen to use dissolving stitches to put the bones together instead of metal plates (see publications #20). With this technique, when the child grows up nothing artificial will be left behind.  More recently, dissolving plates and screws have been developed for use in the skull and facial bones.  It is my preference to not use them for a number of reasons, including the finding that they can end up inside the skull in growing infants.  I have also found that when plates and screws do dissolve, they may leave a weak space inside of the skull bones that makes subsequent operations much more technically challenging.  This is because the skull bones are often left weaker in the areas where the dissolving plates used to be.  For this reason, I feel fairly strongly that they should be avoided in children with syndromes (who are most likely to need additional operations) such as Apert, Crouzon and Pfeiffer, etc.  Finally, in a small percentage of cases, the dissolving plates and screws will melt into a liquid, which collects in a pocket under the skin until a hole opens up on the face or scalp to allow this liquid to drain out.  Given all these potential problems, I am convinced that while it is technically more difficult to use dissolving sutures to rebuild a skull, instead of using plates and screws, it gives the best results with the fewest complications.

For a short time, many years ago, I evaluated using distraction devices with skull surgery, with the hope of being able to move the skull bones further forward than with traditional skull surgery.  However, I found the results with skull distraction were not sufficiently positive to compensate for the additional surgery required with the distraction technique, and the complication rates were also higher with skull distraction.  Therefore, I do not currently recommend this technique.

At the end of the operation, the scalp is closed with dissolving stitches.  I never use metal staples, as these can hurt when they are removed.  I also do not leave any drains going through the scalp because they also hurt when they are pulled out, and in my opinion, they are completely unnecessary.  Additionally, I do not put any bandages on the child.  Instead the child is given a shampoo before leaving the operating room and the hair is combed over the incision.  Although many surgeons do like to use head wrap bandages, it seems clear to me that these bandages make the child more uncomfortable, and do not serve any useful purpose.  In my opinion, the most critically important step at the end of the operation on the skull is for the surgeon to sew the eyelids almost completely shut, with either removable or dissolving sutures.  I have seen a number of children (operated at other craniofacial centers) completely lose vision in one or both eyes, as a result of swelling after the operation, when this was not done.

The child typically will spend one night in the pediatric intensive care unit and is transferred to the floor the following day.  My patients usually spend a total of 48-72 hours in the hospital, prior to discharge.  The risks of the surgery are very small at experienced centers.  Many studies have shown that surgeons with the most experience tend to have the fewest complications.  In a recent published report looking at our center and another center’s combined experience (see publications #15, 1997), no infections were noted in infants undergoing operations for the first time (however, it is nevertheless possible for a infant to get an infection).

When our skull surgery is performed on older children, these children tell us that there is very little discomfort associated with our operation.  Nevertheless, a number of years ago I instituted the policy of playing soft music in children’s rooms after the surgery, because soft music has been shown to decrease the amount of pain medicine that a child requires after any operation. 

Children with Pfeiffer syndrome usually need two to five operations on their skull over a lifetime, depending upon their severity.  It is very important that children be followed closely to monitor for raised intracranial pressure until early teenage years.  In addition, we also monitor for cerebellar tonsillar herniation and enlarging ventricles.  I believe one of the most important ways that surgeons can help children to reach their best potential mental development, is by preventing children from having prolonged raised intracranial pressure.