Ceroid-lipofuscinosis: ultrastructural study of 8 cases.
Autor(a) principal: | |
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Data de Publicação: | 1989 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483 |
Resumo: | The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observations agree with previous reports concerning the predominance of curvilinear bodies in the cells of the late infantile type, and fingerprint-like structures in those of the juvenile type. The finding of parallel tubular arrays and NCL inclusions associated in the same lymphocyte (frequently in the same vacuole) suggests that those structures could be related to the metabolic error of NCL. Ultrastructural examination of microbuffycoats of peripheric blood lymphocytes is a simple, time-saving and reliable method that allows specific confirmation of a clinical diagnosis of Neuronal Ceroid-Lipofuscinosis. |
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Ceroid-lipofuscinosis: ultrastructural study of 8 cases.Cerolipofuscinose: estudo ultrastrutural de 8 casos.The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observations agree with previous reports concerning the predominance of curvilinear bodies in the cells of the late infantile type, and fingerprint-like structures in those of the juvenile type. The finding of parallel tubular arrays and NCL inclusions associated in the same lymphocyte (frequently in the same vacuole) suggests that those structures could be related to the metabolic error of NCL. Ultrastructural examination of microbuffycoats of peripheric blood lymphocytes is a simple, time-saving and reliable method that allows specific confirmation of a clinical diagnosis of Neuronal Ceroid-Lipofuscinosis.The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observations agree with previous reports concerning the predominance of curvilinear bodies in the cells of the late infantile type, and fingerprint-like structures in those of the juvenile type. The finding of parallel tubular arrays and NCL inclusions associated in the same lymphocyte (frequently in the same vacuole) suggests that those structures could be related to the metabolic error of NCL. Ultrastructural examination of microbuffycoats of peripheric blood lymphocytes is a simple, time-saving and reliable method that allows specific confirmation of a clinical diagnosis of Neuronal Ceroid-Lipofuscinosis.Ordem dos Médicos1989-10-30info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483oai:ojs.www.actamedicaportuguesa.com:article/3483Acta Médica Portuguesa; Vol. 2 No. 4-5 (1989): Agosto-Outubro; 207-14Acta Médica Portuguesa; Vol. 2 N.º 4-5 (1989): Agosto-Outubro; 207-141646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483/2773Matias, CCabral, ATasso, TPortela, RJorge, ANunes, J FSoares, Jinfo:eu-repo/semantics/openAccess2022-12-20T11:02:15Zoai:ojs.www.actamedicaportuguesa.com:article/3483Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:18:22.657420Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. Cerolipofuscinose: estudo ultrastrutural de 8 casos. |
title |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
spellingShingle |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. Matias, C |
title_short |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
title_full |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
title_fullStr |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
title_full_unstemmed |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
title_sort |
Ceroid-lipofuscinosis: ultrastructural study of 8 cases. |
author |
Matias, C |
author_facet |
Matias, C Cabral, A Tasso, T Portela, R Jorge, A Nunes, J F Soares, J |
author_role |
author |
author2 |
Cabral, A Tasso, T Portela, R Jorge, A Nunes, J F Soares, J |
author2_role |
author author author author author author |
dc.contributor.author.fl_str_mv |
Matias, C Cabral, A Tasso, T Portela, R Jorge, A Nunes, J F Soares, J |
description |
The authors studied the clinical and ultrastructural features of 8 cases of Neuronal Ceroid-Lipofuscinosis (NCL). Five cases of the late-infantile type and 3 cases of the juvenile type. The clinical diagnosis of all cases was confirmed by the electron microscopy analysis of the peripheral blood lymphocytes and biopsy material from the skin, palpebral conjunctiva, skeletal muscle and rectal mucosa. Our observations agree with previous reports concerning the predominance of curvilinear bodies in the cells of the late infantile type, and fingerprint-like structures in those of the juvenile type. The finding of parallel tubular arrays and NCL inclusions associated in the same lymphocyte (frequently in the same vacuole) suggests that those structures could be related to the metabolic error of NCL. Ultrastructural examination of microbuffycoats of peripheric blood lymphocytes is a simple, time-saving and reliable method that allows specific confirmation of a clinical diagnosis of Neuronal Ceroid-Lipofuscinosis. |
publishDate |
1989 |
dc.date.none.fl_str_mv |
1989-10-30 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483 oai:ojs.www.actamedicaportuguesa.com:article/3483 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/3483 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/3483/2773 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 2 No. 4-5 (1989): Agosto-Outubro; 207-14 Acta Médica Portuguesa; Vol. 2 N.º 4-5 (1989): Agosto-Outubro; 207-14 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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