BACKGROUND: Li-Fraumeni syndrome (LFS) is characterized by a plethora of 
cancers, most prominent of which is carcinoma of the breast followed by 
sarcomas, brain tumors, leukemia, lymphoma, lung carcinoma, and adrenocortical 
carcinoma (therefore, also referred to by the acronym SBLA syndrome).
METHODS: The family reported herein was first described 2 decades ago. Now 
extensive follow-up has shown the predictable occurrence of these tumor types, 
in addition to an excess of brain tumors and the finding of Sturge-Weber 
syndrome (SWS) in an LFS-affected family member.
RESULTS: A possible new feature of the disorder, suggestive of SWS, was 
identified in a patient in the direct genetic lineage. This patient had a 
rhabdomyosarcoma of the eyelid at age 29 months and at age 14 years was 
diagnosed with lymphoblastic lymphoma/acute lymphoblastic leukemia. A remarkable 
excess of brain tumors was identified in this family through this current 
update. The p53 germ-line mutation was not identified in any affected member of 
this family.
CONCLUSIONS: To the authors' knowledge, this is the first example of SWS in the 
context of LFS. Brain tumors appear to be an important component of the tumor 
spectrum of LFS, as evidenced in this family.