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Esclerose tuberosa : casuística de um serviço de Pediatria
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Introdução: A esclerose tuberosa é uma doença autossómica dominante, causada pela mutação nos genes TSC1 ou TSC2, com consequente desregulação da diferenciação, proliferação e migração celular, resultando na formação de tumores benignos em vários órgãos e associando-se, frequentemente, ao aparecimento de epilepsia e alterações neuropsiquiátricas. O diagnóstico baseia-se em critérios clínicos e/ou genéticos. Dada a grande variabilidade fenotípica da esclerose tuberosa, preconiza-se uma abordagem multidisciplinar e acompanhamento dos doentes, de modo a permitir um diagnóstico precoce e abordagem terapêutica.
Metodologia: Estudo observacional retrospetivo de 10 doentes com diagnóstico de esclerose tuberosa, com idades entre os 3 e 22 anos, seguidos desde 16 de Setembro de 1997 a 16 de Setembro de 2019, na Unidade de Neurologia Pediátrica do Serviço de Pediatria de um hospital terciário.
Resultados: 80% dos casos são esporádicos. O estudo genético foi realizado em 60%, tendo-se identificado mutação no gene TSC1 em 50%. Em 60% os sintomas tiveram início antes dos 2 anos de idade. As manifestações iniciais mais frequentes foram as crises epiléticas (60%), que surgiram, em média, aos 11 meses e as manchas cutâneas hipopigmentadas (40%). Dos doentes com epilepsia, 25% apresentam crises controladas com até 3 fármacos antiepiléticos. 1 doente está, atualmente, sob terapêutica com everolimus. Todos os doentes apresentam alterações neurológicas estruturais, bem como, pelo menos uma manifestação neuropsiquiátrica. 50% têm manifestações oftalmológicas. 87.5% dos doentes têm manchas cutâneas hipopigmentadas e 50% têm angiofibromas faciais. 40% dos doentes têm angiomiolipomas renais e 30% têm quistos renais. 22.2% têm rabdomiomas cardíacos. Um doente tem envolvimento pulmonar.
Conclusão: As manifestações neuropsiquiátricas e dermatológicas são as mais frequentes quer na altura do diagnóstico, quer durante o curso da doença.
Introduction: Tuberous sclerosis is an autosomal dominant disorder caused by the mutation in the TSC1 or TSC2 gene, with consequent deregulation of cellular differentiation, proliferation and migration, resulting in the formation of benign tumors in multyple organ systems and it is frequently associated with the development of epilepsy and neuropsychiatric disorders. The diagnosis is based on clinical and/or genetic criteria. As it is a disease with a variable phenotype, a multidisciplinary approach and regular follow-up are recommended to allow early diagnosis and appropriate therapeutic approach. Methodology: Retrospective observational study of clinical records of 10 patients diagnosed with TSC, aged 3 to 22 years, followed from 16 September 1997 to 16 September 2019 at the Pediatric Neurology Unit of a terciary care hospital. Results: 80% of the cases are sporadic. 60% of the patients have a genetic study, of which 50% have mutations in the TSC1 gene. In 60% of the patients the symptoms started before 2 years of age. The most frequent initial manifestations were epileptic seizures (60%), which appeared on average at 11 months, and hypomelanotic spots (40%). Of the patients with epilepsy, 25% have controlled seizures with up to 3 antiepyleptic drugs. 1 patient is currently on therapy with everolimus. All patients have structural neurological lesions as well as at least one TAND. 50% have ophthalmic involvement. 87.5% have hypomelanotic spots and 50% have facial angiofibromas. 40% of the patients have renal angiomyolipomas and 30% have renal cysts. 22.2% have cardiac rhabdomyoma. One patient has pulmonary involvement. Conclusion: Neuropsychiatric and dermatological are the most frequent manifestations, either at the time of diagnosis or during the course of the disease.
Introduction: Tuberous sclerosis is an autosomal dominant disorder caused by the mutation in the TSC1 or TSC2 gene, with consequent deregulation of cellular differentiation, proliferation and migration, resulting in the formation of benign tumors in multyple organ systems and it is frequently associated with the development of epilepsy and neuropsychiatric disorders. The diagnosis is based on clinical and/or genetic criteria. As it is a disease with a variable phenotype, a multidisciplinary approach and regular follow-up are recommended to allow early diagnosis and appropriate therapeutic approach. Methodology: Retrospective observational study of clinical records of 10 patients diagnosed with TSC, aged 3 to 22 years, followed from 16 September 1997 to 16 September 2019 at the Pediatric Neurology Unit of a terciary care hospital. Results: 80% of the cases are sporadic. 60% of the patients have a genetic study, of which 50% have mutations in the TSC1 gene. In 60% of the patients the symptoms started before 2 years of age. The most frequent initial manifestations were epileptic seizures (60%), which appeared on average at 11 months, and hypomelanotic spots (40%). Of the patients with epilepsy, 25% have controlled seizures with up to 3 antiepyleptic drugs. 1 patient is currently on therapy with everolimus. All patients have structural neurological lesions as well as at least one TAND. 50% have ophthalmic involvement. 87.5% have hypomelanotic spots and 50% have facial angiofibromas. 40% of the patients have renal angiomyolipomas and 30% have renal cysts. 22.2% have cardiac rhabdomyoma. One patient has pulmonary involvement. Conclusion: Neuropsychiatric and dermatological are the most frequent manifestations, either at the time of diagnosis or during the course of the disease.
Descrição
Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2020
Palavras-chave
Esclerose tuberosa Idade pediátrica Epilepsia Hamartomas Casuística Pediatria