Correcting Syndromic Craniosynostosis

Published in Pediatrician - Fall 2017 Pediatrician

When Joanna Hope Scott was born, her mother, Elizabeth Scott, immediately noticed the cloverleaf shape of her skull and bulging forehead, which are characteristic of type II Pfeiffer syndrome. Like other newborns with these syndromes, Hope also suffered the related condition craniosynostosis, in which sutures in the skull close prematurely, resulting in increasing pressure in the head that alters its normal, symmetrical appearance. Following corrective surgery at Johns Hopkins Children’s Center, however, the infant’s skull changed dramatically.

“Hope has definitely improved,” says Scott, of Baltimore. “Although she still has some features related to Pfeiffer syndrome, her bulging forehead has completely changed to a normal shape.” 

Interestingly, however, the improved appearance of Hope’s skull was not due to the standard of care for syndromic craniosynostosis, which is an open operation performed 9–12 months after birth. In the surgery, called calvarial vault remodeling, neurosurgeons make a large, ear-to-ear incision to expose and remove part of—or the entire—skull, then reconstruct it to a normal shape and reattach it using plates and screws. Because this is such an invasive operation that can take up to seven hours, surgeons wait until the patient reaches at least 9 months of age, which can pose problems for the patient with a syndrome.

During this period of rapid growth, there is a risk of complications and worsening pressure on their brain, which can cause the shape of the head to become even more severely deformed.

That is why, for patients like Hope, pediatric neurosurgeons employ a minimally invasive endoscopic approach during the first 3 months of life, followed up by 6–12 months of helmet therapy.

The surgeons zero in on where the cranial bones are fused together, and create a suture through the endoscope to relieve pressure on the brain. When freed and allowed to move, the cranial bones can be aligned gently over time with the aid of the helmet, resulting in a more natural growth of the head.

While some patients do require additional calvarial remodeling surgery after the endoscopic/helmet therapy approach, in the surgeons’ review of cases they found that younger age at the time of endoscopic surgery may mitigate that need. In addition, early endoscopic surgery may allow for growth and development of the brain and skull while delaying the need for open remodeling until the patient is older and can better tolerate the procedure (Journal of Neurosurgery: Pediatrics, July 2017).

In some young patients undergoing early endoscopic surgery, the fusion grows back, and they may need another surgery. The new approach reduces that risk, and facilitates an early release of pressure, allowing the brain to expand and the bone to move into a better position. In addition, it buys some time for the patient and allows for more definitive surgery later if necessary.

Offering this early, less invasive approach to patients like Hope, who underwent the procedure at 3.5 weeks of age, strengthens surgeons' ability to provide the best care possible for patients with less complex craniosynostosis.

As surgeons demonstrate their expertise in these more complicated cases of craniosynostosis, they can transfer these skills to the non-syndrome craniosynostosis patients they see.