Pfeiffer Sydrome: Physical Traits
The Brain:
Inside the brain are areas called ventricles, which are filled with cerebral
spinal fluid. One could think of the ventricles as little lakes, inside
the head. Occasionally, these ventricles become filled with too much fluid.
Some children with Pfeiffer syndrome have ventricles that are larger than
normal. No treatment is required for this enlargement, unless a 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. A newer option, currently under investigation,
is the third ventriculostomy, which opens up a connecting pathway between
ventricles.
Another condition that may occur, and is very important to screen for,
is called cerebellar tonsillar herniation, or a "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 cerebellar tonsillar herniation should be checked for
at least once a year until the child is grown (see
[ ]), and that the development of this condition may reflect an
increase in intracranial pressure signaling the need to bring the forehead
further forward to create more room. 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 Pfeiffer children until
teenage years. Children with Pfeiffer syndrome may 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. As a result
of this lack of growth, 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-ophthalmologist evaluate the optic discs,
following head circumference measurements, checking CT scans, and/or MRIs,
looking for signs such as headaches or vomiting, 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, although certainly there
are other factors at work (sleep apnea, central wiring problems, and others);
nevertheless, I recommend that you challenge your child to develop to
his or her fullest.
Other Pfeiffer Syndrome Physical Traits:
Skull | Eyes
& Midface | Ears
| Mouth | Hands
& Feet
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Syndrome
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