What is the recommended treatment and referral approach for adults diagnosed with craniosynostosis?

Adult Craniosynostosis: Treatment and Referral

Adults with unoperated craniosynostosis causing significant frontal deformity should undergo frontocranial remodeling with an intracranial approach, as this is the only effective operation for most cases, despite the increased complexity compared to pediatric surgery. 1

Initial Evaluation

When evaluating an adult with suspected or known craniosynostosis, perform the following assessments:

• Neurological examination to assess for signs of intracranial hypertension, lower brainstem compression, or upper cervical cord compression suggesting Chiari 1 malformation 2
• Fundoscopic examination at every visit to evaluate for papilledema indicating increased intracranial pressure 2, 3
• Assessment of functional impact including headaches, cognitive symptoms, and psychological burden from facial disfigurement 1

Imaging Strategy

Obtain cranial MRI (preferably including a black bone sequence to image the skull) if skull morphology suggests craniosynostosis or clinical signs of intracranial hypertension are present. 2, 4

• MRI is indicated when evaluating for associated intracranial complications like Chiari malformation, not for diagnosing craniosynostosis itself 3
• CT with cerebral contrast can be used for surgical planning once intervention is decided 1

Treatment Approach

Surgical Intervention

For most adults with significant frontal deformity from unoperated craniosynostosis, radical intracranial frontocranial remodeling is necessary. 1

• Limited operations or implants can only be proposed in mild cases to avoid intracranial approach 1
• In a series of 13 adult patients (mean age 24 years), frontocranial remodeling with intracranial approach was used in 11 cases with very satisfactory morphologic correction 1
• No significant perioperative complications occurred, with only two late revisions for bony irregularities through limited approach 1

Timing Considerations

• While early operation in infancy is preferable, correction in adulthood remains possible despite being a more complicated operation 1
• The psychological impact of disfigurement is so significant that young adults are usually willing to undergo radical surgical approach 1

Referral Pathway

Refer adults with craniosynostosis to specialized neurosurgical services, particularly those with expertise in skull base surgery and craniofacial reconstruction. 2

• Access to adult surgical expertise is particularly important for specific tumor sites more commonly encountered in adult practice (skull base, cavernous sinus, petrous bone) 2
• For syndromic craniosynostosis, referral to nationally designated craniofacial centers is mandatory 3, 5
• A multidisciplinary craniofacial team with central coordinator is required for syndromic cases 4

Follow-Up and Monitoring

Annual neurological assessment is recommended for all patients with known craniosynostosis, though further investigations are not recommended in asymptomatic patients. 2, 3

• Complete evaluation with fundoscopy and brain or skull imaging is required for any patient presenting with clinical symptoms of intracranial hypertension, lower brainstem compression, or upper cervical cord compression 2
• Follow-up clinical and radiological evaluation with fundoscopy and brain or skull imaging is recommended for any patient with craniosynostosis or Chiari 1 malformation 2

Critical Pitfalls to Avoid

• Do not delay referral for adults with symptomatic craniosynostosis, as untreated cases can lead to serious complications including developmental delay, sensory dysfunction, and neurological impairment 6
• Do not underestimate surgical complexity in adults compared to pediatric cases—adult correction requires more extensive reconstruction due to established deformity 1
• Do not miss syndromic features that would necessitate referral to specialized craniofacial centers rather than general neurosurgical services 3, 5
• Do not minimize psychological impact—the disfigurement from frontal deformation creates significant to severe psychological burden that justifies surgical intervention despite risks 1