CASE STUDY OF AUTOSOMAL DOMINANT CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY - (CADASIL)
DOI:
https://doi.org/10.56238/levv16n52-043Keywords:
CADASIL, Seizure, Hereditary DiseaseAbstract
Autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant hereditary disease of small and medium blood vessels characterized by the tetrad: dementia, psychiatric disorders, headache and frequent strokes. This disease causes repeated ischemic attacks and is related to mutations in the NOTCH3 gene on chromosome 19. As this condition is a little-known neurodegenerative disease, it is important to highlight it as a disease that deserves attention, present its existence, understand what it is , how it occurs, how to identify, and how to deal with this pathology, can promote a better quality of life for the patient. The objective of this study was to report the case of a patient with CADASIL, seeking to succinctly demonstrate his routine, and understand his condition, so as to then seek forms of intervention if necessary, if it can improve or stabilize with the care of the patient. patient. Results: In this study, physical quality, physical activity, sleep and self-esteem questionnaires were carried out in order to evaluate the quality of life of people with this disease. Final Considerations: It can be seen through this case study that CADASIL disease brings several physiological disorders to the patient, making him unable to carry out certain tasks, activities and common tasks in daily life.
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References
ANDRÉ, Charles. CADASIL: pathotogenesis, clinical and radiological findings and treatment. Pathotogenesis, Clinical and radiological findings and treatment. 2010. Disponívelem: file:///C:/Users/Usuario/Documents/TCC%201/download.pdf Acessoem: 27 mar. 2023.
B, Netto J. A arteriopatia cerebral autossômica dominante com infartos subcorticais e leucoencefalopatia (CADASIL). 2015. Disponível em: https://clinicamedica2015.iweventos.com.br/upload/trabalhos/TJF4gvU6oxnXQftXLeRNVaxHtMs0.pdf. Acesso em: 27 mar. 2023.
CORREIA, Nadia Manuela Fernandes. SÍNDROME CADASIL: EPIDEMIOLOGIA, CLÍNICA E GENÉTICA. 2011. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/cadasil4.pdf. Acesso em: 27 mar. 2023.
DIEU, J H; VEYCKEMANS, F. Perioperative management of CADASIL type arteriopathy patent. 2003. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/PIIS0007091217367259.pdf. Acesso em: 27 mar. 2023.
EMANUELE, Morena et al. CADASIL or MS? Consider “Red Flags” but Avoid a Misdiagnosis: Case Series of a Concomitant Diagnosis. 2022. Disponívelem: file:///C:/Users/Usuario/Documents/TCC%201/cadasil-or-ms-consider-ldquored-flagsrdquo-but-avoid-a-misdiagnosis-case-series-of-a-concomitant-diagnosis.pdf. Acessoem: 27 mar. 2023.
HAWKES, Maximiliano A et al. A arteriopatia cerebral autossômica dominante com infartos subcorticais e leucoencefalopatia (CADASIL). 2015. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/cerebral-autosomal-dominant-arteriopathy-with-subcortical-infarcts-and-leukoencephalopathy.pdf. Acesso em: 27 mar. 2023.
ÍNDICE DE QUALIDADE DE SONO DE PITTSBURGINSTRUÇÕES PARA PONTUAÇÃO. 2011. Disponível em: https://julianadentista.files.wordpress.com/2011/07/escore-do-questionc3a1rio-de-pittsburg.pdf. Acesso em: 30 de out. de 2023.
KIM, Yerim et al. Genotype and Phenotype Differences in CADASIL from an Asian Perspective. 2022. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/ijms-23-11506-v2.pdf. Acesso em: 27 mar. 2023.
LINKEDIN. AUTOESTIMA: OS SEIS PILARES E ESCALA DE ROSEMBERG. 2021. Disponível em: https://pt.linkedin.com/pulse/autoestima-os-seis-pilares-e-escala-de-rosemberg-polyana. Acesso em: 30 de out. de 2023.
MARINHO, Arthur Coelho Moura et al. CADASIL: relato de caso. 2022. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/admin,+Art+201+BJHR+Fev+22.pdf. Acesso em: 27 mar. 2023.
OLIVEIRA, Fernanda Zanovelly de; PICKA, Mariele Cristina Modolo. RESSONÂNCIA MAGNÉTICA NO DIAGNÓSTICO DA ARTERIOPATIA CEREBRAL AUTOSSOMATICA DOMINANTE COM INFARTOS SUBCORTICAIS E LEUCOENCEFALOPATIA (CADASIL). 2018. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/1385-6607-2-PB.pdf. Acesso em: 27 mar. 2023.
PEREIRA, Everson Fernandes. Gente da CADASIL. 2019. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/PASO0484-D.pdf. Acesso em: 27 mar. 2023.
REDAÇÃO SECAD. Como o fisioterapeuta deve mensurar o grau de força muscular. 2020. Disponível em: https://blog.artmed.com.br/fisioterapia/como-mensurar-grau-forca-muscular. Acesso em: 13 set. 2023.
SILVA, Gustavo Brambila Trindade da et al. ANÁLISE GENÉTICO MOLECULAR DE PACIENTES COM SUSPEITA DE CADASIL. 2010. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/000337.pdf. Acesso em: 27 mar 2023.
SILVA, Julio Cesar Vasconcelos da et al. Emerson L. Gasparetto: eliaszengelhardt. EliaszEngelhardt. 2012. Disponível em: https://www.google.com/url?sa=t&source=web&rct=j&url=https://www.redalyc.org/pdf/3395/339529038013.pdf&ved=2ahUKEwit4snqyaX-AhW7jZUCHcRTDV8QFnoECAgQAQ&usg=AOvVaw3FE7o-pZT8kSUxJ7E73LJb. Acesso em: 27 mar. 2023.
SILVA, Julio Cesar Vasconcelos da. ESTUDO DA COGNIÇÃO E DO COMPORTAMENTO EM CORRELAÇÃO COM NEUROIMAGEM EM PACIENTES COM ARTERIOPATIA CEREBRAL AUTOSSÔMICA DOMINANTE COM INFARTOS SUBCORTICAIS E LEUCOENCEFALOPATIA (CADASIL): Seguimento de oito anos. 2017. Disponível em: file:///C:/Users/Usuario/Documents/TCC%201/850125.pdf. Acesso em: 27 mar. 2023.
VERSÃO BRASILEIRA DO QUESTIONÁRIO DE QUALIDADE DE VIDA -SF-36. 2010. Disponível em: https://qualipes.com.br/lib/download/questionariosf-36.pdf. Acesso em: 30 de out. de 2023.
