Conclusion
Our case features the unique challenges posed by the finding of multiple
hereditary cancer susceptibility mutations in a pediatric patient with
syndromic intellectual disability. This rare case highlights both the
potential increased diagnostic yield of WES reanalysis and the
unforeseen consequences of secondary medically actionable results,
specifically in pediatric and adolescent patients. These consequences
also extend to at-risk relatives who could require further testing and
possible increased surveillance and early interventions. Thus, proper
counselling, referral to appropriate specialists and evidence-based
management, with the acknowledgement that hereditary cancer screening
and management guidelines typically change in time based on new
information, are essential for physicians, patients, and their families
in these rare circumstances.