Posterior Cranial Decompression in ERF-Mutated Multisuture Craniosynostosis

Area of Science:

• Pediatric Neurosurgery
• Clinical Genetics
• Developmental Biology

Background:

• Multisutural craniosynostosis causes abnormal skull shape and elevated intracranial pressure (ICP), risking neurodevelopment.
• Syndromic craniosynostosis often involves genetic mutations, such as in the ERF gene.
• Elevated ICP in infants requires timely intervention to prevent neurological damage.

Purpose of the Study:

• To report a case of multisutural craniosynostosis associated with an ERF gene mutation.
• To evaluate the efficacy of early posterior decompression in managing elevated ICP and skull deformities.
• To highlight the long-term neurodevelopmental outcomes and cranial morphology following surgical intervention.

Main Methods:

• A case report of a 6-day-old infant diagnosed with multisutural craniosynostosis.
• Diagnostic imaging to confirm elevated ICP and assess cranial morphology.
• Surgical intervention involving posterior cranial and foramen magnum decompression at 2 months of age.
• Long-term follow-up to assess developmental milestones and cranial stability.

Main Results:

• The infant presented with multisutural craniosynostosis and an ERF gene mutation, with confirmed elevated ICP.
• Posterior decompression successfully reduced ICP and stabilized cranial morphology, allowing deferral of fronto-orbital advancement.
• By age 2, the child exhibited normal developmental milestones, stable cranial shape, and no Chiari I malformation.

Conclusions:

• Early posterior decompression is a safe and effective first-line treatment for syndromic craniosynostosis with elevated ICP.
• This surgical approach facilitates natural bone reformation and may reduce the necessity for secondary reconstructive surgeries.
• Multidisciplinary management is crucial for optimizing outcomes in complex pediatric craniofacial anomalies.