Li-Fraumeni syndrome - What does it mean for the general practitioner and general paediatrician?

Distinguishing a lymphadenopathy from neck swelling due to other causes may not be easy in children. The authors describe a case of an 18-month-old child who presented with unilateral partoid swelling, which was subsequently diagnosed as embryonal rhabdomysarcoma. Because of a family history of breast cancer and the association between breast cancer in a family and rhabdomyosarcoma, Li-Fraumeni syndrome, a more aggressive approach to diagnosis was pursued.