BPAN manifesting with febrile seizures and language delay:a case report from Brazil
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Clinical and Biomedical Research |
Texto Completo: | https://seer.ufrgs.br/index.php/hcpa/article/view/101603 |
Resumo: | Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). |
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Clinical and Biomedical Research |
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BPAN manifesting with febrile seizures and language delay:a case report from BrazilFebrile seizuresNBIABPANWDR45 mutationInborn Errors of MetabolismNBIA disordersNeurodevelopmental diseasesNeurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE).HCPA/FAMED/UFRGS2021-06-28info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionPeer-reviewed ArticleAvaliado por paresapplication/pdfhttps://seer.ufrgs.br/index.php/hcpa/article/view/101603Clinical & Biomedical Research; Vol. 41 No. 1 (2021): Clinical and Biomedical ResearchClinical and Biomedical Research; v. 41 n. 1 (2021): Clinical and Biomedical Research2357-9730reponame:Clinical and Biomedical Researchinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSenghttps://seer.ufrgs.br/index.php/hcpa/article/view/101603/pdfCopyright (c) 2021 Clinical and Biomedical Researchinfo:eu-repo/semantics/openAccessAlves Silva, Maria Cecília de MattosBatista Rezende, Thayane RosasCarneiro, Zumira A.Lourenço, Charles Marques2024-01-19T14:20:41Zoai:seer.ufrgs.br:article/101603Revistahttps://www.seer.ufrgs.br/index.php/hcpaPUBhttps://seer.ufrgs.br/index.php/hcpa/oai||cbr@hcpa.edu.br2357-97302357-9730opendoar:2024-01-19T14:20:41Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.none.fl_str_mv |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
title |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
spellingShingle |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil Alves Silva, Maria Cecília de Mattos Febrile seizures NBIA BPAN WDR45 mutation Inborn Errors of Metabolism NBIA disorders Neurodevelopmental diseases |
title_short |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
title_full |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
title_fullStr |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
title_full_unstemmed |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
title_sort |
BPAN manifesting with febrile seizures and language delay:a case report from Brazil |
author |
Alves Silva, Maria Cecília de Mattos |
author_facet |
Alves Silva, Maria Cecília de Mattos Batista Rezende, Thayane Rosas Carneiro, Zumira A. Lourenço, Charles Marques |
author_role |
author |
author2 |
Batista Rezende, Thayane Rosas Carneiro, Zumira A. Lourenço, Charles Marques |
author2_role |
author author author |
dc.contributor.author.fl_str_mv |
Alves Silva, Maria Cecília de Mattos Batista Rezende, Thayane Rosas Carneiro, Zumira A. Lourenço, Charles Marques |
dc.subject.por.fl_str_mv |
Febrile seizures NBIA BPAN WDR45 mutation Inborn Errors of Metabolism NBIA disorders Neurodevelopmental diseases |
topic |
Febrile seizures NBIA BPAN WDR45 mutation Inborn Errors of Metabolism NBIA disorders Neurodevelopmental diseases |
description |
Neurodegeneration with brain iron accumulation (NBIA) is a complex group of hereditary progressive neurodegenerative diseases characterized by deposition of iron in the basal ganglia. Twelve genetic forms of this disorder have been identified in previous studies. Though they have different inheritance mechanisms all are usually associated with abnormal brain MRI findings. One of NBIA types is an X-linked disorder known as Beta-propeller Protein Associated Neurodegeneration (BPAN). Herein we describe the case of a 4-year-old girl with 2 episodes of febrile seizures, a brain MRI showing nonspecific hyperintense signal in the dentate nucleus area, and delays in language and communication development. Her diagnosis was made based on a genetic evaluation where exome sequencing revealed a mutation in the position chrX:48.933.022 region of the WDR45 gene. The literature describes different clinical presentations for BPAN, each with a different prognosis, suggesting a wide range of possible symptoms of BPAN, including mild cognitive delay and even epileptic encephalopathy (EE). |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-06-28 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Peer-reviewed Article Avaliado por pares |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/101603 |
url |
https://seer.ufrgs.br/index.php/hcpa/article/view/101603 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://seer.ufrgs.br/index.php/hcpa/article/view/101603/pdf |
dc.rights.driver.fl_str_mv |
Copyright (c) 2021 Clinical and Biomedical Research info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2021 Clinical and Biomedical Research |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
publisher.none.fl_str_mv |
HCPA/FAMED/UFRGS |
dc.source.none.fl_str_mv |
Clinical & Biomedical Research; Vol. 41 No. 1 (2021): Clinical and Biomedical Research Clinical and Biomedical Research; v. 41 n. 1 (2021): Clinical and Biomedical Research 2357-9730 reponame:Clinical and Biomedical Research instname:Universidade Federal do Rio Grande do Sul (UFRGS) instacron:UFRGS |
instname_str |
Universidade Federal do Rio Grande do Sul (UFRGS) |
instacron_str |
UFRGS |
institution |
UFRGS |
reponame_str |
Clinical and Biomedical Research |
collection |
Clinical and Biomedical Research |
repository.name.fl_str_mv |
Clinical and Biomedical Research - Universidade Federal do Rio Grande do Sul (UFRGS) |
repository.mail.fl_str_mv |
||cbr@hcpa.edu.br |
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1799767055696658433 |