Ask the Doctor
Question: Our two year old
daughter has craniofrontonasal dysplasia (CFND). She's already undergone her
initial surgeries (a cranial vault distraction at 11 months of age and a
cranial vault remodel at 18 months of age).
What are the chances of skull regression? Also, she's having focal
seizures, three in the last six months. One had a duration of 15 minutes. Is this common with CFND, or could this be a
result of a procedure? Finally, should we medicate her with anti-seizure
medications at this point?
Answer: Craniofrontonasal dysplasia is a rare,
X-linked craniofacial syndrome that results in hypertelorism, craniosynostosis
(most often bicoronal) and abnormal facial growth. It is caused by mutations in
a specific gene called the EFNB1 gene. This gene is responsible for making a
protein that is involved in signal transduction and is thought to be important
in neural development.
When babies are born with CFND,
surgery is often required to treat the craniosynostosis and the associated
abnormal skull shape. It is common for children with craniofacial syndromes to
require multiple surgeries over the course of childhood and adolescence. The more cranial sutures that are involved,
the more abnormal the headshape can be and the more abnormal skull growth may
be after surgical correction.
Although I am not certain
what you mean by “skull regression,” I assume you may mean either a worsening
skull shape over time or trending of the skull shape back toward the way it
looked before surgery. There can be several reasons for worsening skull shape.
First, it is possible that there was inadequate correction at the first
surgery. This seems unlikely if your child was treated by an experienced,
well-trained craniofacial plastic surgeon. The next reason for worsening skull
shape may be soft tissue restriction, or tightness of the skin and soft tissue
over the skull bones which can resist bone repositioning and reshaping and make
it difficult to get as big of a correction as your surgeon may have wanted. This
soft tissue tightness can also exert some pressure on the bones and negatively
affect shape, particularly when surgery is done very early when the skull bones
are soft. Finally, although surgery can
improve skull shape, it can’t create a normal suture, and so the skull may not
grow normally after surgery. As a result, even though the skull shape may be
good right after surgery, as your baby continues to grow, the shape may appear
to regress simply because the skull does not grow normally afterwards.
It is impossible to predict
how a baby’s skull shape will change over time following surgery. In general,
however, I tell my patients that the likelihood of skull shape problems is
lowest in simple, single suture, non-syndromic craniosynostosis. The risk of
persistent skull shape problems and need for future surgery is highest in
children with multiple suture synostosis and children with craniofacial
syndromes. In these children, I anticipate the possible need for several
surgeries between birth and the teenage years. In my practice, the decision to
offer revision surgeries is based on skull growth, development of signs of
elevated intracranial pressure or concerns about appearance that lead to
psychosocial problems for the child.
As for the question regarding
seizures, it would be unusual for seizures to be caused by the surgical
procedure. Although the brain can be
injured during cranial vault procedures in a way that may cause seizures, this
is unlikely. Your pediatric neurosurgeon should be able to tell you if there
were any concerns about injury to the brain or the brain’s protective covering
during the procedure. An MRI scan can also help to determine whether there was any
brain injury if your team is concerned about this possibility. The pediatric neurosurgeon I work with and I both
agree that any question regarding the need to treat seizures should be
discussed with your child’s neurologist.
Thank you Dr. Gage for thoughtfully answering this question and consulting with your colleague. As you can see, craniofacial conditions affect a child's entire well-being. For more information and resources, please see our website.
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