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Progressive postnatal craniosynostosis and increased intracranial pressure
John P Connolly1, Joseph Gruss, Marianne L Seto
1Division of Plastic Surgery, Department of Surgery, and the Children's Hospital and Regional Medical Center Craniofacial Center, University of Washington School of Medicine, Seattle, 98105-0371, USA. jgruss@chmc.org
Plastic and Reconstructive Surgery
|April 3, 2004
Summary
Progressive craniosynostosis, a form of premature skull fusion, can develop postnatally in infants with normal head shapes. Early monitoring for increased intracranial pressure is crucial to prevent permanent impairment.
Area of Science:
- Craniofacial Surgery
- Pediatric Neurosurgery
- Medical Genetics
Background:
- Craniosynostosis, the premature fusion of skull sutures, is traditionally viewed as a congenital condition affecting skull shape at birth.
- A distinct form, progressive craniosynostosis, presents with normal infant head shape and open sutures, but leads to multiple-suture fusion and increased intracranial pressure postnatally.
Observation:
- Patients with progressive craniosynostosis, unlike those with classic syndromic craniosynostosis, initially have normal skull morphology.
- These patients frequently develop increased intracranial pressure (ICP) and require surgical intervention, often presenting with midface hypoplasia or hypertelorism.
Findings:
- A retrospective study compared progressive (n=15) and classic syndromic (n=12) craniosynostosis, revealing that all progressive cases showed evidence of ICP.
- Progressive cases exhibited papilledema, anterior fontanelle bulge, and thumbprinting more frequently than classic cases.
- Mutational analysis in progressive craniosynostosis identified FGFR2 mutations in 11 of 13 patients, suggesting a link to Crouzon syndrome.
Implications:
- Traditional ICP monitoring signs (papilledema, fontanelle bulge, thumbprinting) are effective for progressive craniosynostosis.
- Early recognition and vigilant monitoring are vital to prevent severe consequences associated with increased intracranial pressure.
- Awareness of progressive craniosynostosis is critical for timely diagnosis and surgical intervention, improving patient outcomes.