Tuberous sclerosis consensus conference: Recommendations for diagnostic evaluation

At the recent Tuberous Sclerosis Consensus Conference, a subcommittee propo sed recommendations to guide the rational use of diagnostic studies in pati ents with tuberous sclerosis complex. Recommendations were made for diagnos tic evaluation at the time of diagnosis, when testing helps both to establi sh the diagnosis and to identify potential complications. Additional guidel ines were proposed for the ongoing surveillance of established patients to detect later complications of tuberous sclerosis complex. In the absence of comprehensive population studies to govern the use of diagnostic studies i n individuals with tuberous sclerosis complex, the panel developed guidelin es based on the disorder's natural history concentrating on complications t hat are common, clinically significant, and more easily managed when found early. Finally, the group made suggestions for the use of diagnostic tests to identify family members who have tuberous sclerosis complex. Although th ese recommendations should standardize and improve our use of diagnostic st udies in individuals with tuberous sclerosis complex, the clinical approach in a given patient must remain flexible enough to meet the needs of indivi dual patients and families.