Abstracts

Rationale: Tuberous Sclerosis Complex (TSC) is an autosomal dominant, variably expressed, multisystem disorder that cause lesions in multiple organs. The incidence is 1 in 6000. Both genders are equally affected. The clinical features are diverse, varying accordingly with manifestations presented - cardiac rhabdomyomas, lymphangiomyomatosis, retinal, renal, hepatic and dermatological lesions, epilepsy, cognitive impairment, behavioural problems and autism. The aim of this study is to describe the clinical features of the patients that are followed at the Tuberous Sclerosis Clinic - Hospital das Clínicas of Medicine College of the University of São Paulo, and to check if they are different in any instance from other groups already described in the literature, from others countries. Methods: Clinical evaluation and review of the medical records and exams of each patient. Results: At the moment, 78 patients had already been evaluated: 58% of them are female and 42% are male. The age varies between six months to 38 years-old - any patient younger than 12 months-old, 7,7% between 12 and 24 months-old, 11,7% between 24 months-old and 5 years-old, 18% between 5 and 10 years-old, and 62,6% older than 10 years-old. Thirty one per cent are familial cases. 47% was diagnosed at the first year of life. About the clinical manifestations, the epilepsy is present in 85% - 74% began seizures at the first year of life and 26% need three or more antiepileptic medications. Subependymal giant-cell astrocytoma (SEGA) is presented in 18%. Forty per cent of these patients have needed neurosurgical resection. 98% of the entire group has hipomelanotic macules, 67% presents facial angiofibromas, 51% renal angiomyolipomas, 29% retinal lesions, 46% has or already had cardiac rhabdomyomas, 10% hepatic lesions and three per cent has lymphangiomyomatosis. Conclusions: The group that is followed at the clinic resemble others already described in the literature what reinforce the ideia that there is no regional influence in the clinical expression of TSC. The differences observed were the frequency of SEGA - higher than in others studies, and the frequency of facial angiofibromas, renal angiomyolipomas, retinal lesions - lower than expected. The reason for the greater number of patients with SEGA may be attributed to the fact that our center is also a neurosurgery reference center, so we receive several patients with tumors for evaluation and we absorve them to our clinic to keep the follow up. The lower incidence of facial angiofibromas, renal angiomyolipomas and retinal lesions is not relevant in comparison with other populations already studied in literature. These incidences varies accordingly to the age range of the patients evaluated, because they tend to develop in older patients. It is very important to know the details of the TSC and its clinical manifestations in the population studied, to be able to early recognize the TSC and to offer the best approach and clinical follow up. Therefore, the multidisciplinar team can really help to improve the quality of life of the patients, our principal aim.