What is the management approach for Pai syndrome?

Management Approach for Pai Syndrome

The management of Pai syndrome requires a coordinated multidisciplinary approach with evaluation and follow-up by specialists experienced with rare developmental disorders to optimize outcomes and prevent complications. 1, 2

Clinical Features and Diagnosis

• Pai syndrome is a rare congenital disorder characterized by:

  • Midline cleft of the upper lip 2, 3
  • Facial cutaneous polyps (typically nasal) 2, 4
  • Pericallosal lipoma 5, 6
  • Normal neuropsychological development in most cases 2, 3

• Additional features may include:

  • Duplicated maxillary median frenulum 3
  • Ocular anomalies 2
  • Atypical findings: temporal triangular alopecia, posterior lenticonus, bilateral palatal pits, bifid uvula, hypospadias, sacral dimple, true tracheal bronchus, and rarely epilepsy 2
  • Agenesis of the corpus callosum (rare) 3

Multidisciplinary Management Team

• The management team should include specialists in:
  • Neurosurgery for evaluation and management of pericallosal lipomas 1, 5
  • Plastic surgery for facial polyps and cleft lip repair 2, 4
  • Otolaryngology for nasal polyps 4
  • Ophthalmology for ocular anomalies 2
  • Neurology for monitoring and management of potential neurological complications 2, 3
  • Clinical genetics for genetic counseling 3

Surgical Management

• Surgical correction of cleft lip should follow standard protocols for cleft repair 2, 4
• Facial and nasal polyps should be surgically removed if they cause functional or cosmetic concerns 2, 4
• Pericallosal lipomas generally do not require surgical intervention unless they cause symptoms 5
  • Careful monitoring is preferred over surgical removal due to the risks associated with intracranial surgery 1

Neurological Management

• Regular neurological assessment to monitor for:

  • Seizures (rare but reported in some cases) 2
  • Developmental delays (though typically normal development is expected) 2, 3
  • Symptoms related to pericallosal lipoma 5

• Brain imaging (MRI) should be performed at diagnosis and follow-up as needed based on symptoms 5, 6

Long-term Follow-up

• Regular follow-up with the multidisciplinary team is essential 1, 2
• Monitoring for potential complications related to specific anomalies 2
• Assessment of growth and development 2, 3
• Psychological support for patients and families 1

Genetic Counseling

• Genetic counseling should be provided to families 3
• Most cases are sporadic, but chromosomal abnormalities have been reported in some cases 3
• Prenatal diagnosis is possible through detection of pericallosal lipoma and facial anomalies on ultrasound and MRI 5, 6

Special Considerations

• Careful assessment for associated anomalies that may not be apparent at initial diagnosis 2
• Awareness that the full clinical spectrum of Pai syndrome is still being delineated 2, 3
• The etiology remains unknown but is likely heterogeneous, potentially resulting from chromosomal abnormalities, environmental factors, or de novo mutations 3

Pitfalls and Caveats

• Avoid focusing solely on the more obvious facial anomalies while missing potential intracranial or other associated anomalies 2, 5
• Do not assume developmental delay or intellectual disability as part of the syndrome, as most patients have normal neuropsychological development 2, 3
• Consider that the clinical presentation can be variable, and not all classic features may be present in every case 2, 6