Excessive daytime sleepiness. When to think of narcolepsy?

Detalhes bibliográficos
Autor(a) principal: Rosinha, Inês
Data de Publicação: 2023
Outros Autores: Santos, Lea, Madureira, Núria
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
Texto Completo: https://doi.org/10.25753/BirthGrowthMJ.v32.i1.24750
Resumo: Narcolepsy is a rare entity that has excessive daytime sleepiness (EDS) as chief complaint. It is a lifelong neurological condition that can be dramatically disabling in the life of a child or adolescent. The classic symptomatic tetrad of EDS − cataplexy, hypnagogic hallucinations, and sleep paralysis − is relatively rare and usually not present in early stages of the disorder, making the diagnosis quite challenging. The authors describe two clinical cases of adolescents presenting with EDS in which complementary studies culminated in the diagnosis of narcolepsy. Both cases highlight the importance of a high level of suspicion when dealing with EDS since early diagnosis and treatment of narcolepsy are crucial to improve patients’ quality of life and minimize the negative impact on school performance and social repercussions.
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spelling Excessive daytime sleepiness. When to think of narcolepsy?Sonolência diurna excessiva. Quando pensar em narcolepsia?Case ReportsNarcolepsy is a rare entity that has excessive daytime sleepiness (EDS) as chief complaint. It is a lifelong neurological condition that can be dramatically disabling in the life of a child or adolescent. The classic symptomatic tetrad of EDS − cataplexy, hypnagogic hallucinations, and sleep paralysis − is relatively rare and usually not present in early stages of the disorder, making the diagnosis quite challenging. The authors describe two clinical cases of adolescents presenting with EDS in which complementary studies culminated in the diagnosis of narcolepsy. Both cases highlight the importance of a high level of suspicion when dealing with EDS since early diagnosis and treatment of narcolepsy are crucial to improve patients’ quality of life and minimize the negative impact on school performance and social repercussions.A narcolepsia é uma condição rara que tem a sonolência diurna excessiva (SDE) como principal manifestação clínica. Trata-se de uma situação neurológica cujo impacto a longo prazo na vida de uma criança ou adolescente pode ser extremamente incapacitante. A tétrade sintomática clássica, caracterizada por SDE, cataplexia, alucinações hipnagógicas e paralisia do sono, é relativamente rara e por norma não está presente nos estágios iniciais da doença, tornando o diagnóstico bastante desafiante. Os autores descrevem dois casos clínicos de adolescentes com SDE, nos quais a investigação complementar culminou no diagnóstico de narcolepsia. Ambos visam destacar a importância de um elevado nível de suspeição clínica perante a SDE, na medida em que o diagnóstico e tratamento precoces da narcolepsia são fundamentais para melhorar a qualidade de vida e minimizar o impacto negativo no desempenho escolar e as repercussões sociais nestes doentes.Unidade Local de Saúde de Santo António2023-06-23info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://doi.org/10.25753/BirthGrowthMJ.v32.i1.24750eng2183-9417Rosinha, InêsSantos, LeaMadureira, Núriainfo:eu-repo/semantics/openAccessreponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiainstacron:RCAAP2024-05-07T09:46:40Zoai:ojs.revistas.rcaap.pt:article/24750Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireinfo@rcaap.ptopendoar:https://opendoar.ac.uk/repository/71602025-05-28T14:39:46.203552Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologiafalse
dc.title.none.fl_str_mv Excessive daytime sleepiness. When to think of narcolepsy?
Sonolência diurna excessiva. Quando pensar em narcolepsia?
title Excessive daytime sleepiness. When to think of narcolepsy?
spellingShingle Excessive daytime sleepiness. When to think of narcolepsy?
Rosinha, Inês
Case Reports
title_short Excessive daytime sleepiness. When to think of narcolepsy?
title_full Excessive daytime sleepiness. When to think of narcolepsy?
title_fullStr Excessive daytime sleepiness. When to think of narcolepsy?
title_full_unstemmed Excessive daytime sleepiness. When to think of narcolepsy?
title_sort Excessive daytime sleepiness. When to think of narcolepsy?
author Rosinha, Inês
author_facet Rosinha, Inês
Santos, Lea
Madureira, Núria
author_role author
author2 Santos, Lea
Madureira, Núria
author2_role author
author
dc.contributor.author.fl_str_mv Rosinha, Inês
Santos, Lea
Madureira, Núria
dc.subject.por.fl_str_mv Case Reports
topic Case Reports
description Narcolepsy is a rare entity that has excessive daytime sleepiness (EDS) as chief complaint. It is a lifelong neurological condition that can be dramatically disabling in the life of a child or adolescent. The classic symptomatic tetrad of EDS − cataplexy, hypnagogic hallucinations, and sleep paralysis − is relatively rare and usually not present in early stages of the disorder, making the diagnosis quite challenging. The authors describe two clinical cases of adolescents presenting with EDS in which complementary studies culminated in the diagnosis of narcolepsy. Both cases highlight the importance of a high level of suspicion when dealing with EDS since early diagnosis and treatment of narcolepsy are crucial to improve patients’ quality of life and minimize the negative impact on school performance and social repercussions.
publishDate 2023
dc.date.none.fl_str_mv 2023-06-23
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
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status_str publishedVersion
dc.identifier.uri.fl_str_mv https://doi.org/10.25753/BirthGrowthMJ.v32.i1.24750
url https://doi.org/10.25753/BirthGrowthMJ.v32.i1.24750
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2183-9417
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Unidade Local de Saúde de Santo António
publisher.none.fl_str_mv Unidade Local de Saúde de Santo António
dc.source.none.fl_str_mv reponame:Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
instname:FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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instname_str FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
instacron_str RCAAP
institution RCAAP
reponame_str Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
collection Repositórios Científicos de Acesso Aberto de Portugal (RCAAP)
repository.name.fl_str_mv Repositórios Científicos de Acesso Aberto de Portugal (RCAAP) - FCCN, serviços digitais da FCT – Fundação para a Ciência e a Tecnologia
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