Esclerose tuberosa: a propósito de dois casos
The tuberous sclerosis complex (TSC) is a genetic condition presented with the formation of hamartomas which may occur anywhere in the human organism, but especially in the central nervous system, kidneys, heart and skin and its early diagnosis is essential for patient’s follow-up and prevention and...
| Autor principal: | CARVALHO, Juliana Maroja Seráfico de Assis |
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| Grau: | Trabalho de Conclusão de Curso - Graduação |
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2023
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https://bdm.ufpa.br:8443/jspui/handle/prefix/5037 |
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oai:https:--bdm.ufpa.br:8443:prefix-50372023-01-17T03:06:52Z Esclerose tuberosa: a propósito de dois casos CARVALHO, Juliana Maroja Seráfico de Assis CARVALHO, Jaime Roberto Seráfico de Assis http://lattes.cnpq.br/5560874250154262 Hamartomas Eletroencefalograma Neurologia Genética Electroencephalogram Neurology Genetics CNPQ::CIENCIAS DA SAUDE::MEDICINA The tuberous sclerosis complex (TSC) is a genetic condition presented with the formation of hamartomas which may occur anywhere in the human organism, but especially in the central nervous system, kidneys, heart and skin and its early diagnosis is essential for patient’s follow-up and prevention and control of complications. During this research, clinical data have been obtained from two TSC patients, emphasizing the way the disease evolved and the control of its complications. In both cases, the clinical hallmarks were the epilepsy of moderate and hard control and the cognitive disability. Also, these features were joined by dermatological alterations, specifically the typical adenoma sebaceum. Both patients presented with renal manifestations, including systemic arterial hypertension and one case had severe renal insufficiency and evolved to death. The conclusion is that in both cases, the course of the disease was unfavorable, but with early diagnosis and adequate clinical and surgical management, the patient’s life quality can be improved while new promissing studies test more efficient therapeutic strategies to reduce the frequency and severity os seizures and other complications. A esclerose tuberosa (ET) é uma condição genética caracterizada pela formação de hamartomas passível de ocorrer em qualquer órgão do corpo humano, mas especialmente em sistema nervoso central, rins, coração e pele e cujo diagnóstico precoce é imprescindível para acompanhamento do paciente e prevenção e controle de complicações. Durante esta pesquisa, foram colhidos dados sobre a história clínica de dois pacientes portadores de ET, enfatizando a forma de evolução da doença e controle de suas complicações. Em ambos os casos, as manifestações clínicas mais importantes foram a epilepsia e o deficit cognitivo. Além disso, o quadro foi acompanhado por alterações dermatológicas, especificamente o típico adenoma sebáceo. Ambos os pacientes apresentaram manifestações renais, inclusive hipertensão arterial sistêmica e um caso apresentou insuficiência renal grave e evoluiu ao óbito. Conclui-se que em ambos os casos, a evolução da doença foi desfavorável, no entanto, com o diagnóstico precoce e manejo clínico adequado e até mesmo cirúrgico, a qualidade de vida do paciente pode ser aprimorada enquanto novos estudos promissores testam estratégias terapêuticas mais eficazes para reduzir a freqüência e a intensidade das convulsões e das outras complicações. 2023-01-16T16:43:50Z 2023-01-16T16:43:50Z 2009 Trabalho de Conclusão de Curso - Graduação CARVALHO, Juliana Maroja Seráfico de Assis. Esclerose tuberosa: a propósito de dois casos. Orientador: Jaime Roberto Seráfico de Assis Carvalho. 2009. 44 f. Trabalho de Conclusão de Curso (Bacharelado em Medicina) - Faculdade de Medicina, Instituto de Ciências da Saúde, Universidade Federal do Pará, Belém, 2009. Disponível em: https://bdm.ufpa.br:8443/jspui/handle/prefix/5037. Acesso em:. https://bdm.ufpa.br:8443/jspui/handle/prefix/5037 Acesso Aberto 1 CD ROM |
| institution |
Biblioteca Digital de Monografias - UFPA |
| collection |
MonografiaUFPA |
| topic |
Hamartomas Eletroencefalograma Neurologia Genética Electroencephalogram Neurology Genetics CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| spellingShingle |
Hamartomas Eletroencefalograma Neurologia Genética Electroencephalogram Neurology Genetics CNPQ::CIENCIAS DA SAUDE::MEDICINA CARVALHO, Juliana Maroja Seráfico de Assis Esclerose tuberosa: a propósito de dois casos |
| topic_facet |
Hamartomas Eletroencefalograma Neurologia Genética Electroencephalogram Neurology Genetics CNPQ::CIENCIAS DA SAUDE::MEDICINA |
| description |
The tuberous sclerosis complex (TSC) is a genetic condition presented with the formation of hamartomas which may occur anywhere in the human organism, but especially in the central nervous system, kidneys, heart and skin and its early diagnosis is essential for patient’s follow-up and prevention and control of complications. During this research, clinical data have been obtained from two TSC patients, emphasizing the way the disease evolved and the control of its complications. In both cases, the clinical hallmarks were the epilepsy of moderate and hard control and the cognitive disability. Also, these features were joined by dermatological alterations, specifically the typical adenoma sebaceum. Both patients presented with renal manifestations, including systemic arterial hypertension and one case had severe renal insufficiency and evolved to death. The conclusion is that in both cases, the course of the disease was unfavorable, but with early diagnosis and adequate clinical and surgical management, the patient’s life quality can be improved while new promissing studies test more efficient therapeutic strategies to reduce the frequency and severity os seizures and other complications. |
| author_additional |
CARVALHO, Jaime Roberto Seráfico de Assis |
| author_additionalStr |
CARVALHO, Jaime Roberto Seráfico de Assis |
| format |
Trabalho de Conclusão de Curso - Graduação |
| author |
CARVALHO, Juliana Maroja Seráfico de Assis |
| title |
Esclerose tuberosa: a propósito de dois casos |
| title_short |
Esclerose tuberosa: a propósito de dois casos |
| title_full |
Esclerose tuberosa: a propósito de dois casos |
| title_fullStr |
Esclerose tuberosa: a propósito de dois casos |
| title_full_unstemmed |
Esclerose tuberosa: a propósito de dois casos |
| title_sort |
esclerose tuberosa: a propósito de dois casos |
| publishDate |
2023 |
| url |
https://bdm.ufpa.br:8443/jspui/handle/prefix/5037 |
| _version_ |
1787155393709867008 |
| score |
11.674752 |