What is the recommended workup for a child with suspected craniosynostosis (premature fusion of the skull bones)?

Recommended Workup for Suspected Craniosynostosis in Children

The diagnostic approach for suspected craniosynostosis should begin with clinical assessment followed by Transcranial Ultrasound (TCUS) as the initial imaging modality for infants under 12 months, with CT or MRI reserved for specific indications such as surgical planning, complex cases, or inconclusive ultrasound results. 1

Initial Clinical Evaluation

• Key clinical findings to assess:

  • Abnormal head shape and asymmetry
  • Palpation for ridging along suture lines
  • Fontanelle abnormalities (size, premature closure)
  • Signs of increased intracranial pressure (irritability, vomiting, bulging fontanelle)
  • Growth parameters including head circumference 1

• Physical examination is essential but not always sufficient:

  • Recent research shows that physical examination alone may be inadequate, with up to 6.8% of clinically diagnosed single-suture craniosynostosis cases not confirmed on imaging 2

Imaging Algorithm

1. For infants <12 months:

   • First-line: Transcranial Ultrasound (TCUS)
     • Advantages: No radiation exposure, adequate suture visualization, cost-effective 1, 3
     • Most effective in infants younger than 8-12 months 1
     • Highly specific and sensitive when performed by experienced operators 3

2. TCUS results interpretation:

   • Negative TCUS → No further imaging needed, continue clinical monitoring
   • Positive TCUS → Refer to neurosurgery
   • Inconclusive TCUS → Proceed to CT or MRI 1

3. Advanced imaging indications (CT or MRI):

   • Surgical planning
   • Complex or syndromic craniosynostosis
   • Children older than 12 months (where TCUS is less reliable)
   • Evaluation of intracranial complications
   • Signs of increased intracranial pressure 1

4. Type of advanced imaging:

   • CT examination: For surgical planning (using low-dose techniques)
   • MRI with black bone sequence: For suspected intracranial hypertension 1

Additional Evaluations

• Ophthalmologic examination: To assess for papilledema and visual abnormalities
• Developmental assessment: To establish baseline and monitor progress
• Genetic evaluation: Particularly for suspected syndromic cases 1

Multidisciplinary Approach

• Team involvement should include:
  • Neurosurgery
  • Plastic/craniofacial surgery
  • Ophthalmology
  • Developmental pediatrics
  • Genetics (especially for syndromic cases) 1

Important Considerations

• Radiation exposure risk: CT scanning should be used judiciously, especially in young infants 4

  • Some centers have successfully avoided routine CT scans in single-suture craniosynostosis, relying primarily on clinical examination and ultrasound 4

• Optimal timing: The "golden age" for TCUS is under 6 months of life 3

• Operator dependence: TCUS accuracy depends on sonographer's experience and expertise, suggesting case centralization is advisable 1, 3

• Follow-up monitoring: Regular assessment for cranial growth, neurological status, vision, and developmental milestones is essential 1

By following this structured approach, clinicians can effectively diagnose craniosynostosis while minimizing unnecessary radiation exposure in this vulnerable pediatric population.