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Título

Tuberous Sclerosis or Bourneville-Pringle disease: case series and literature review

RESUMO

Cases: CASE 1: A 58-y-old male with intellectual disability, epilepsy, renal angiomyolipomas, dupuytren contracture in hands, facial angiofibromas and ungual fibroma in the nail matrix. CT scan showed cortical atrophy and periventricular calcifications (calcified tuberes). EEG with epileptiform activity in anterior regions bilaterally. CASE 2: A 33-y-old female with epilepsy, renal angiomyolipomas and facial angiofibromas. Her grandfather, father and cousin had the same signs and symptoms. Brain MRI showed subcortical tubers in both cerebral hemispheres and a small subependymal nodule. The genetic testing showed alteration in the TSC2 gene. CASE 3: A 35-y-old male with epilepsy, intellectual disability, facial angiofibromas and hypopigmented macules on the back. CT scan showed two cortical hamartomas and subependymal nodules. CASE 4: A 36-y-old male with epilepsy, intellectual disability, facial angiofibromas, shagreen patches and hypopigmented macules on the back. Discussion: Tuberous Sclerosis (TS), also known as Bourneville-Pringle disease, a rare autosomal dominant phacomatosis or cutaneous syndromes, was first describe in 1862 by von Recklinghausen. Posteriorly, Bourneville and Pringle used the term Tuberous Sclerosis. In 1905, Vogt characterized the clinical triad of mental retardation, seizures and characteristics skin lesions. TS is originates from mutations in the TSC1 and TSC2 tumor suppressor genes located on chromosomes 9q34 and 16p13.3, respectively. The TSC1 gene is responsible for encoding a protein called hamartin and TSC2 for tuberin. TS affects both genders equally with a great diversity of manifestations (cutaneous, renal, pulmonary, cardiac, and neurological). The diagnosis is basically clinical. All patients described have epilepsy, the main neurological manifestation of TS, occurring in up to 90% of the cases, with seizures usually starting in the first three years of life. All patients have renal angiomyolipomas which usually affects about 80% of patients. All of them presented facial angiofibromas and also cortical tubers. Although genetic testing was performed in only one patient, the diagnosis can be made in the other cases based on the clinical and radiological presentation. Complementary exams, like CT and MRI, are important to detect cortical tuberosities. Final comments: TS is a rare disease. Its early recognition is of great importance for a better treatment and follow-up, with multidisciplinary team.

Palavras Chave

Epilepsy. Tuberous Sclerosis. Phacomatosis.

Área

Epilepsia