Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child

Detalhes bibliográficos
Autor(a) principal: Sobreira, I
Data de Publicação: 2012
Outros Autores: Sousa, C, Raposo, A, Soares, MR, Soudo, AP, Dias, AI
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10400.17/1748
Resumo: Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.
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spelling Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young ChildNeuropatia Hereditária Motora e SensorialMãoCriançaHDE MFRHDE NEU PEDHereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.Hindawi Publishing CorporationRepositório do Centro Hospitalar Universitário de Lisboa Central, EPESobreira, ISousa, CRaposo, ASoares, MRSoudo, APDias, AI2014-03-25T10:54:53Z20122012-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/1748engCase Rep Pediatr.2012:Article ID 382657info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:33:09Zoai:repositorio.chlc.min-saude.pt:10400.17/1748Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:19:10.566398Repositório 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 Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
title Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
spellingShingle Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
Sobreira, I
Neuropatia Hereditária Motora e Sensorial
Mão
Criança
HDE MFR
HDE NEU PED
title_short Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
title_full Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
title_fullStr Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
title_full_unstemmed Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
title_sort Hereditary Neuropathy with Liability to Pressure Palsy Presenting with Hand Drop in a Young Child
author Sobreira, I
author_facet Sobreira, I
Sousa, C
Raposo, A
Soares, MR
Soudo, AP
Dias, AI
author_role author
author2 Sousa, C
Raposo, A
Soares, MR
Soudo, AP
Dias, AI
author2_role author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE
dc.contributor.author.fl_str_mv Sobreira, I
Sousa, C
Raposo, A
Soares, MR
Soudo, AP
Dias, AI
dc.subject.por.fl_str_mv Neuropatia Hereditária Motora e Sensorial
Mão
Criança
HDE MFR
HDE NEU PED
topic Neuropatia Hereditária Motora e Sensorial
Mão
Criança
HDE MFR
HDE NEU PED
description Hereditary neuropathy with liability to pressure palsy (HNPP) results from the deletion of the PMP22 gene in chromosome 17p11.2. Clinically, it presents with painless pressure palsies, typically in the 2nd and 3rd decades of life, being a rare entity in childhood. We present the case study of a six-year-old male child who presented with left hand drop that he kept for over four weeks. Electrophysiological studies suggested HNPP and genetic studies confirmed it. With this paper, we pretend to create awareness to this entity as a diagnosis to be considered in a child with painless monoparesis and to emphasize the importance of electrophysiological studies in the diagnosis.
publishDate 2012
dc.date.none.fl_str_mv 2012
2012-01-01T00:00:00Z
2014-03-25T10:54:53Z
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 http://hdl.handle.net/10400.17/1748
url http://hdl.handle.net/10400.17/1748
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Case Rep Pediatr.2012:Article ID 382657
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 Hindawi Publishing Corporation
publisher.none.fl_str_mv Hindawi Publishing Corporation
dc.source.none.fl_str_mv 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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