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.