CROUZON Disease is a form of craniofacial abnormality. It comes from a larger group of diseases affecting the skull called craniosynostosis, which is a premature sutural fusion of the skull.
In newborn babies, the skull is made up of islands of bones and the joints between them are called sutures, where growth of the cranial bones takes place. As the bones grow, the skull expands. Closure of sutures usually occurs two years after an infant’s birth. During that time, the infant’s brain would have grown at least 80%.
“Basically the problem in Crouzon Disease is the premature closure of the sutures, affecting mainly the base of the skull. With early closure, the skull doesn’t grow and the brain is constricted. It also causes development of the face, especially the mid-portion, to be impaired,” explains Dr Chee Chee Pin, consultant neurosurgeon at Gleneagles Intan, Pantai Medical Centre, and Tung Shin Hospital, all in Kuala Lumpur, and the Subang Jaya Medical Centre in Subang Jaya, Selangor.
He says this is because when the base of the skull grows forward, it also brings forward the face. But this does not happen when the sutures close prematurely.
Dr Chee reveals that premature closure of sutures can happen in any part of the brain. The classic case would be where sutures of the forehead are affected thereby causing the forehead area to appear flattened. Sometimes it can involve sutures of the midline (saggital or metopic sutures); occasionally sutures behind the brain are affected, resulting in a severe form of Crouzon Disease.
There are also milder forms that affect only one suture over the forehead. “These cases present themselves not at birth but when the child is between three and four years old, when they develop other problems, other than some deformities of the forehead. They might complain of headaches, vomiting – classical symptoms of increasing pressure inside the brain.”
Dr Chee goes on to explain that Crouzon Disease is a genetic disorder. This means it is hereditary and requires only one parent to have the trait to pass it on to his/her offspring. But there are some sporadic cases which happen to random groups of people.
The odds of Crouzon Disease occurring in infants are 1:5,000 to 1:20,000. And as Dr Chee clarifies, during the nine-month pregnancy, mothers-to-be would not realise something is amiss unless hydrocephalus (excessive water of the brain) is present and is shown on the ultrasound. Otherwise, parents will only find out upon the baby’s birth.
Characteristics of children with Crouzon Disease include shallow orbits/eye sockets resulting in protruding eyes. Noticeable at birth, the condition gets worse as the child grows older. Another feature is recession of the midface (maxillary hypolasia). Also evident at birth, it becomes more prominent as the child grows older.
“With growth of the brain, the midface grows forward. If it can’t grow forward, it will become recessed,” explains Dr Chee.
“And because the midface is recessed, the mandible will protrude forward. The nose cavity becomes small and it can lead to a narrow airway causing breathing difficulties.”
Another characteristic is intellectual disabilities. This can be due to hydrocephalus, which is associated with some cases of Crouzon Disease. Or it could be a result of craniosynostosis, which on its own can cause impairment of the intellect because the brain does grow.
Children with Crouzon Disease do not die from the illness itself but from the complications arising from it. For instance, if there is impairment in the airways, this will give rise to respiratory problems, especially infection. “And, of course, if the brain is not growing, their lifespan will be impaired because of difficulties looking after themselves. But if properly treated, the child should have a normal lifespan and intellect. There are some severe cases where the outlook doesn’t look good because of complications that arise. But there are many cases which appear to be quite satisfactory.”
“To ensure the child achieves the best possible results, surgical correction of the skull has to be performed very early in life, when he/she is at least three months old.“The correction is to deepen the eye sockets and lengthen the interior base of the skull to allow the forward growth of the brain and hopefully the face. If it is done early, some children might not need further surgery because sometimes the face will grow along with the forehead and the results are acceptable to the family. Of course, there are some severe forms that require multiple operations because the suture can close down and we might have to reopen within the first few years.
“If the operation is conducted when the child is more than six months old, even the first correction doesn’t offer the advantage of allowing the face to grow forward. That part of the midface will have to be corrected in a separate operation. But we will still go ahead with the skull surgery to allow growth of the brain. The midface correction is usually undertaken later. Bringing the midface forward is a plastic procedure to improve appearance and the air passage. We usually recommend surgery when the child is in his/her teenage years. If not, it’s bound to be repeated because the face also undergoes moulding with age. Even when the child has grown up, the face advancement can still be performed.”
Not surprisingly, most Malaysians do not know much about Crouzon Disease. Nevertheless, skull surgery on children with Crouzon Disease has been performed by local neurosurgeons for many years now.
“We’ve been doing it for more than 20 years, both in the Government and private centres although for the midface advancement, up to recently, most cases have been conducted overseas.
“But in some cases when the surgery is done early, the child has minimal deformity, which is actually acceptable to the family, and they do not see any reason to go for midface advancement.
“On the neurosurgery side, our basic concern is brain growth. Sometimes the child would need multiple operations to ensure the skull doesn’t close down. The midface, whether it grows along with the correction, is secondary. Of course, we will correct the protrusion of the eyes by advancing the socket.” – By Li Ee Kee
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