What is the recommended initial workup for a child presenting with childhood-onset facial asymmetry (facial asymmetry) without associated symptoms in a pediatric setting (pediatric setting)?

Initial Workup for Childhood-Onset Facial Asymmetry in Pediatric Setting

The recommended initial workup for a child presenting with childhood-onset facial asymmetry without associated symptoms should include MRI of the brain with contrast as the preferred initial imaging study, comprehensive ophthalmological assessment, and referrals to pediatric neurology and ophthalmology specialists. 1

Differential Diagnosis Considerations

• Facial asymmetry in children can have multiple etiologies that require systematic evaluation:
  • Neurological causes: Bell's palsy, intracranial mass/tumor affecting facial nerve, cerebrovascular event affecting facial motor cortex 1
  • Ophthalmological causes: Strabismus with compensatory head posture, orbital asymmetry 1, 2
  • Congenital/developmental causes: Hemifacial microsomia, plexiform neurofibromas in NF1, maxillary sinus hypoplasia 2, 3
  • Structural causes: Temporomandibular joint disorders, skeletal discrepancies 4
  • Rare epileptic phenomena: Negative motor phenomena affecting facial muscles 5

Initial Clinical Evaluation

• History taking should focus on:

  • Exact onset timing and progression of the asymmetry 1
  • Associated symptoms (visual changes, pain, neurological symptoms) 1
  • Developmental history and family history of similar conditions 1
  • Review of photographs to establish timeline of progression 2

• Physical examination should include:

  • Documentation of facial asymmetry pattern and severity 1
  • Evaluation for dysmorphic features that might suggest syndromic causes 1, 2
  • Complete cranial nerve assessment, particularly facial nerve function using House-Brackmann scale 1
  • Assessment of facial width differences, orbital level differences, and alar base position 6

Immediate Diagnostic Workup

• Imaging studies:

  • MRI of the brain with contrast is the preferred initial imaging study to evaluate for intracranial pathology 1
  • 3D-CT maxillofacial scan should be considered to accurately assess skeletal discrepancies and soft tissue deficiency if structural causes are suspected 6

• Ophthalmological assessment:

  • Visual acuity testing 2
  • Binocular alignment assessment and corneal light reflex testing 2
  • Extraocular muscle function evaluation 2
  • Fundoscopic examination 1
  • Red reflex examination to rule out media opacities 2

• Additional evaluations based on clinical suspicion:

  • If plexiform neurofibroma is suspected, evaluate for other signs of NF1 2
  • If facial asymmetry is associated with dysmorphic features, consider genetic evaluation for conditions like 22q11.2 deletion syndrome 2
  • If FASD is suspected based on facial features, comprehensive neurobehavioral assessment 2

Referrals

• Immediate referrals:

  • Pediatric neurologist for evaluation of possible neurological causes 1
  • Pediatric ophthalmologist for comprehensive eye examination 1, 2

• Additional referrals based on findings:

  • Craniofacial specialist if structural abnormalities are identified 6, 7
  • Genetics consultation if syndromic features are present 2
  • Otolaryngology if maxillary sinus hypoplasia or other ENT pathology is suspected 3

Important Clinical Considerations

• New-onset hemifacial asymmetry without trauma in a child should be considered a potentially serious finding requiring prompt evaluation 1
• Distinguishing between true anatomical asymmetry and functional asymmetry (like compensatory head posture from strabismus) is critical 1, 2
• Facial asymmetry may be the first sign of an intracranial process requiring urgent attention 1
• Children with prominent epicanthal folds and/or a wide, flat nasal bridge and normal binocular alignment often have the illusion of esotropia (pseudoesotropia), which can be mistaken for facial asymmetry 2

Follow-up Recommendations

• Close monitoring of progression is essential, as some conditions like hemifacial microsomia show increasing asymmetry with growth 1
• Repeat imaging may be necessary if symptoms progress or change 1
• For progressive cases, early intervention may be necessary to prevent worsening of asymmetry and associated functional problems 8

Pitfalls to Avoid

• Failing to distinguish between true anatomical asymmetry and pseudoasymmetry from compensatory head postures 1, 2
• Overlooking subtle neurological signs that might indicate serious underlying pathology 1
• Delaying appropriate imaging studies in cases of progressive asymmetry 1
• Focusing only on cosmetic aspects while missing potential functional implications 8