Stuve-wiedemann syndrome in a child: a case report
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | MedNEXT Journal of Medical and Health Sciences |
Texto Completo: | https://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/297 |
Resumo: | Introduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone dysplasia and respiratory distress and eating disorder. Objective: To report the case of a girl with Stuve-Wiedemann Syndrome. Case Description: A 7-year-old female SSG patient presented, at birth, with early neonatal sepsis, septic shock, pneumonia, respiratory acidosis, jaundice without the need for phototherapy, food intolerance, anemia, seizures, interstitial pulmonary edema, myositis and osteomyelitis of the right humerus. After 11 months of follow-up, she was referred to a maternal-fetal clinic for genetic testing to investigate the symptoms. The patient was diagnosed with Stüve-Wiedemann Syndrome. Final Considerations: This disease is considered a primary congenital bone dysplasia, characterized by skeletal and joint changes, bowing of the long bones, episodic hyperthermia, periodic respiratory infections, eating disorders and high mortality. These were facts found in the case of the child presented here. On the other hand, this disease can manifest other symptoms such as fissured tongue and episodes of hyperhidrosis, but it was not found in our patient's case. Rare diseases of genetic origin have a high negative impact on patients' quality of life. However, with the practice of physical activity, patients can have a healthy diet. Swimming practice by SSG presents itself as an extremely important activity for the physical and psychological development of this child, contributing to the improvement of her quality of life. |
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Stuve-wiedemann syndrome in a child: a case reportOsteochondrodysplasiasChild syndromeCase ReportIntroduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone dysplasia and respiratory distress and eating disorder. Objective: To report the case of a girl with Stuve-Wiedemann Syndrome. Case Description: A 7-year-old female SSG patient presented, at birth, with early neonatal sepsis, septic shock, pneumonia, respiratory acidosis, jaundice without the need for phototherapy, food intolerance, anemia, seizures, interstitial pulmonary edema, myositis and osteomyelitis of the right humerus. After 11 months of follow-up, she was referred to a maternal-fetal clinic for genetic testing to investigate the symptoms. The patient was diagnosed with Stüve-Wiedemann Syndrome. Final Considerations: This disease is considered a primary congenital bone dysplasia, characterized by skeletal and joint changes, bowing of the long bones, episodic hyperthermia, periodic respiratory infections, eating disorders and high mortality. These were facts found in the case of the child presented here. On the other hand, this disease can manifest other symptoms such as fissured tongue and episodes of hyperhidrosis, but it was not found in our patient's case. Rare diseases of genetic origin have a high negative impact on patients' quality of life. However, with the practice of physical activity, patients can have a healthy diet. Swimming practice by SSG presents itself as an extremely important activity for the physical and psychological development of this child, contributing to the improvement of her quality of life.MetaScience Press2023-06-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/29710.54448/mdnt23217MedNEXT Journal of Medical and Health Sciences; Vol. 4 No. 2 (2023): MedNEXT - March 2023MedNEXT Journal of Medical and Health Sciences; v. 4 n. 2 (2023): MedNEXT - March 20232763-567810.54448/10.54448/mdnt232reponame:MedNEXT Journal of Medical and Health Sciencesinstname:Faculdade de Medicina em São José do Rio Preto (Faceres)instacron:FACERESenghttps://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/297/281Copyright (c) 2023 Natália Ferrari, Mariana Gomes de Oliveira Santos, Dáfane Lima Miguel, Marcela Rodrigues da Cunha Alvarenga, Letícia Peres Moraes, Ana Laura Braga, Ivan Carlos Pereira, Maria Carolina Contihttps://creativecommons.org/licenses/by/4.0info:eu-repo/semantics/openAccessFerrari, NatáliaSantos, Mariana Gomes de OliveiraMiguel, Dáfane LimaAlvarenga, Marcela Rodrigues da CunhaMoraes, Letícia PeresBraga, Ana LauraPereira, Ivan Carlos Conti, Maria Carolina2023-06-05T22:10:43Zoai:ojs2.mednext.zotarellifilhoscientificworks.com:article/297Revistahttps://mednext.zotarellifilhoscientificworks.com/index.php/mednextPUBhttps://mednext.zotarellifilhoscientificworks.com/index.php/mednext/oaimednextjmhs@zotarellifilhoscientificworks.com2763-56782763-5678opendoar:2023-06-05T22:10:43MedNEXT Journal of Medical and Health Sciences - Faculdade de Medicina em São José do Rio Preto (Faceres)false |
dc.title.none.fl_str_mv |
Stuve-wiedemann syndrome in a child: a case report |
title |
Stuve-wiedemann syndrome in a child: a case report |
spellingShingle |
Stuve-wiedemann syndrome in a child: a case report Ferrari, Natália Osteochondrodysplasias Child syndrome Case Report |
title_short |
Stuve-wiedemann syndrome in a child: a case report |
title_full |
Stuve-wiedemann syndrome in a child: a case report |
title_fullStr |
Stuve-wiedemann syndrome in a child: a case report |
title_full_unstemmed |
Stuve-wiedemann syndrome in a child: a case report |
title_sort |
Stuve-wiedemann syndrome in a child: a case report |
author |
Ferrari, Natália |
author_facet |
Ferrari, Natália Santos, Mariana Gomes de Oliveira Miguel, Dáfane Lima Alvarenga, Marcela Rodrigues da Cunha Moraes, Letícia Peres Braga, Ana Laura Pereira, Ivan Carlos Conti, Maria Carolina |
author_role |
author |
author2 |
Santos, Mariana Gomes de Oliveira Miguel, Dáfane Lima Alvarenga, Marcela Rodrigues da Cunha Moraes, Letícia Peres Braga, Ana Laura Pereira, Ivan Carlos Conti, Maria Carolina |
author2_role |
author author author author author author author |
dc.contributor.author.fl_str_mv |
Ferrari, Natália Santos, Mariana Gomes de Oliveira Miguel, Dáfane Lima Alvarenga, Marcela Rodrigues da Cunha Moraes, Letícia Peres Braga, Ana Laura Pereira, Ivan Carlos Conti, Maria Carolina |
dc.subject.por.fl_str_mv |
Osteochondrodysplasias Child syndrome Case Report |
topic |
Osteochondrodysplasias Child syndrome Case Report |
description |
Introduction: Stüve-Wiedemann Syndrome was first described in 1971. However, this disease was considered a single entity only a few years later. The syndrome is now known to be an autosomal recessive disorder in which the patient has dysautonomia, bone dysplasia and respiratory distress and eating disorder. Objective: To report the case of a girl with Stuve-Wiedemann Syndrome. Case Description: A 7-year-old female SSG patient presented, at birth, with early neonatal sepsis, septic shock, pneumonia, respiratory acidosis, jaundice without the need for phototherapy, food intolerance, anemia, seizures, interstitial pulmonary edema, myositis and osteomyelitis of the right humerus. After 11 months of follow-up, she was referred to a maternal-fetal clinic for genetic testing to investigate the symptoms. The patient was diagnosed with Stüve-Wiedemann Syndrome. Final Considerations: This disease is considered a primary congenital bone dysplasia, characterized by skeletal and joint changes, bowing of the long bones, episodic hyperthermia, periodic respiratory infections, eating disorders and high mortality. These were facts found in the case of the child presented here. On the other hand, this disease can manifest other symptoms such as fissured tongue and episodes of hyperhidrosis, but it was not found in our patient's case. Rare diseases of genetic origin have a high negative impact on patients' quality of life. However, with the practice of physical activity, patients can have a healthy diet. Swimming practice by SSG presents itself as an extremely important activity for the physical and psychological development of this child, contributing to the improvement of her quality of life. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-06-05 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/297 10.54448/mdnt23217 |
url |
https://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/297 |
identifier_str_mv |
10.54448/mdnt23217 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
https://mednext.zotarellifilhoscientificworks.com/index.php/mednext/article/view/297/281 |
dc.rights.driver.fl_str_mv |
https://creativecommons.org/licenses/by/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
MetaScience Press |
publisher.none.fl_str_mv |
MetaScience Press |
dc.source.none.fl_str_mv |
MedNEXT Journal of Medical and Health Sciences; Vol. 4 No. 2 (2023): MedNEXT - March 2023 MedNEXT Journal of Medical and Health Sciences; v. 4 n. 2 (2023): MedNEXT - March 2023 2763-5678 10.54448/10.54448/mdnt232 reponame:MedNEXT Journal of Medical and Health Sciences instname:Faculdade de Medicina em São José do Rio Preto (Faceres) instacron:FACERES |
instname_str |
Faculdade de Medicina em São José do Rio Preto (Faceres) |
instacron_str |
FACERES |
institution |
FACERES |
reponame_str |
MedNEXT Journal of Medical and Health Sciences |
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MedNEXT Journal of Medical and Health Sciences |
repository.name.fl_str_mv |
MedNEXT Journal of Medical and Health Sciences - Faculdade de Medicina em São José do Rio Preto (Faceres) |
repository.mail.fl_str_mv |
mednextjmhs@zotarellifilhoscientificworks.com |
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