What is the assessment and management of craniosynostosis?

Assessment and Management of Craniosynostosis

Clinical examination is the primary diagnostic approach for craniosynostosis, with imaging reserved for equivocal cases or surgical planning. 1

Clinical Assessment

Initial Evaluation

• Detailed head shape examination looking for:
  • Abnormal skull shape and asymmetry
  • Ridging along suture lines
  • Fontanelle abnormalities (premature closure)
  • Signs of increased intracranial pressure (bulging fontanelle, irritability, vomiting)
  • Palpation of sutures for prominence or fusion 1

Key Clinical Findings

• Specific head shape deformities based on affected suture:
  • Sagittal synostosis: scaphocephaly (long, narrow head)
  • Coronal synostosis: anterior plagiocephaly (flattened forehead on affected side)
  • Metopic synostosis: trigonocephaly (triangular forehead)
  • Lambdoid synostosis: posterior plagiocephaly (flattened occiput)
• Neurological examination to assess for signs of increased intracranial pressure
• Fundoscopic examination to evaluate for papilledema 1, 2

Diagnostic Imaging

First-Line Imaging

• Transcranial Ultrasound (TCUS) is recommended as the initial imaging modality for infants under 12 months with suspected craniosynostosis 1
  • Advantages: No radiation exposure, adequate visualization of sutures, cost-effective
  • Limitations: Operator-dependent, less reliable in infants older than 8-12 months

When to Proceed to Advanced Imaging

• CT or MRI is indicated in the following scenarios:
  • Inconclusive TCUS results
  • Surgical planning (CT preferred)
  • Complex or syndromic craniosynostosis
  • Children older than 12 months
  • Evaluation of intracranial complications
  • Signs of increased intracranial pressure (MRI with black bone sequence preferred) 1, 3

Radiation Considerations

• CT scanning should be used sparingly due to radiation exposure risk, particularly in young infants 4
• When CT is necessary for surgical planning, low-dose techniques should be employed 3, 1

Management Approach

Surgical Intervention

• Early surgical intervention is crucial to:
  • Improve craniofacial form
  • Prevent increased intracranial pressure
  • Reduce risk of neurodevelopmental impairment
  • Address functional issues (vision, breathing) 1, 2

Surgical Techniques

• Single-suture craniosynostosis: Linear excision of the affected suture
• Multiple-suture or complex craniosynostosis: More extensive cranial vault remodeling
• Timing: Typically performed between 3-12 months of age, with earlier intervention for severe cases 5

Multidisciplinary Care

• Team approach involving:
  • Neurosurgery
  • Plastic/craniofacial surgery
  • Ophthalmology
  • Developmental pediatrics
  • Genetics (especially for syndromic cases) 1

Follow-up and Monitoring

Post-surgical Monitoring

• Regular follow-up to assess:
  • Cranial growth and development
  • Neurological status
  • Vision and hearing
  • Developmental milestones 1, 2

Long-term Surveillance

• Annual neurological assessment
• Monitoring for signs of increased intracranial pressure
• Developmental evaluation
• Additional follow-up for syndromic cases to monitor associated anomalies 1

Special Considerations

Syndromic vs. Non-syndromic

• Syndromic cases require more extensive evaluation and multidisciplinary management
• Genetic testing should be considered in cases with:
  • Multiple suture involvement
  • Family history of craniosynostosis
  • Associated congenital anomalies 1, 6

Pitfalls to Avoid

• Misdiagnosis of positional plagiocephaly as craniosynostosis (and vice versa)
• Delayed diagnosis leading to increased risk of intracranial hypertension
• Unnecessary radiation exposure from CT scans in infants 7, 4
• Inadequate follow-up after surgical correction 5

While clinical examination is often sufficient for diagnosis, recent evidence suggests that physical examination alone may miss approximately 6.8% of cases, highlighting the importance of appropriate imaging when clinical suspicion is high 7.