Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso
Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder of neurodevelopment, its incidence is estimated around 1:25,000 live births. In Honduras the prevalence and incidence of PWS is unknown, however, there is information of two previously reported cases...
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Colegio Médico de Honduras
2025-03-01
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| Series: | Revista Médica Hondureña |
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| Online Access: | https://www.camjol.info/index.php/RMH/article/view/19275 |
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| author | Tatiana Martínez Lozano Jessica Henríquez Ascela Vásquez Raxa Aguilar |
| author_facet | Tatiana Martínez Lozano Jessica Henríquez Ascela Vásquez Raxa Aguilar |
| author_sort | Tatiana Martínez Lozano |
| collection | DOAJ |
| description | Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder of neurodevelopment, its incidence is estimated around 1:25,000 live births. In Honduras the prevalence and incidence of PWS is unknown, however, there is information of two previously reported cases in the years of 2008 and 2014, captured in different municipalities of the country. It is caused by the loss of genetic expression of paternal chromosome 15q11-q13. It presents clinical manifestations such as muscular hypotonia, characteristic facial features, cognitive deficits, behavioral alterations, hyperphagia and obesity. In spite of being a rare entity, the importance of submitting people who have it to a comprehensive rehabilitation program is described; in Honduras we do not have reports of evolution of previous cases. Case description: We present the case of a female infant who was referred to the Centro de Rehabilitación Integral Teletón at the age of 7 months because she presented poor mobility, poor sucking and generalized muscular hypotonia since birth, in addition to global psychomotor developmental delay; she was diagnosed as PWS at the age of 12 months. She underwent a comprehensive rehabilitation program in the areas of early stimulation, neurorehabilitation, multisensory stimulation, among others, obtaining clinical improvement in all developmental spheres evaluated. Conclusion: Timely management and diagnosis, as well as the early implementation of rehabilitation plans allow this population to improve their medical conditions, obtain and improve their developmental milestones, achieving greater functionality and quality of life in the short, medium and long term. |
| format | Article |
| id | doaj-art-ad3ea12a26184824a9ddac371c8b4d49 |
| institution | Kabale University |
| issn | 0375-1112 1995-7068 |
| language | Spanish |
| publishDate | 2025-03-01 |
| publisher | Colegio Médico de Honduras |
| record_format | Article |
| series | Revista Médica Hondureña |
| spelling | doaj-art-ad3ea12a26184824a9ddac371c8b4d492025-08-20T03:52:42ZspaColegio Médico de HondurasRevista Médica Hondureña0375-11121995-70682025-03-0192Suplemento 2172110.5377/rmh.v92iSupl.2.19275Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de casoTatiana Martínez Lozano0https://orcid.org/0009-0001-1465-9178Jessica Henríquez1https://orcid.org/0009-0006-9972-232XAscela Vásquez2https://orcid.org/0009-0008-5206-1370Raxa Aguilar3https://orcid.org/0009-0004-8769-1445Universidad Nacional Autónoma de Honduras, Facultad de Ciencias Médicas, Posgrado de Medicina de Rehabilitación; Tegucigalpa, Honduras.Universidad Nacional Autónoma de Honduras, Facultad de Ciencias Médicas, Posgrado de Medicina de Rehabilitación; Tegucigalpa, Honduras.Fundación Teletón, Centro de Rehabilitación Integral Teletón; Tegucigalpa, Honduras.Fundación Teletón, Centro de Rehabilitación Integral Teletón; Tegucigalpa, Honduras.Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder of neurodevelopment, its incidence is estimated around 1:25,000 live births. In Honduras the prevalence and incidence of PWS is unknown, however, there is information of two previously reported cases in the years of 2008 and 2014, captured in different municipalities of the country. It is caused by the loss of genetic expression of paternal chromosome 15q11-q13. It presents clinical manifestations such as muscular hypotonia, characteristic facial features, cognitive deficits, behavioral alterations, hyperphagia and obesity. In spite of being a rare entity, the importance of submitting people who have it to a comprehensive rehabilitation program is described; in Honduras we do not have reports of evolution of previous cases. Case description: We present the case of a female infant who was referred to the Centro de Rehabilitación Integral Teletón at the age of 7 months because she presented poor mobility, poor sucking and generalized muscular hypotonia since birth, in addition to global psychomotor developmental delay; she was diagnosed as PWS at the age of 12 months. She underwent a comprehensive rehabilitation program in the areas of early stimulation, neurorehabilitation, multisensory stimulation, among others, obtaining clinical improvement in all developmental spheres evaluated. Conclusion: Timely management and diagnosis, as well as the early implementation of rehabilitation plans allow this population to improve their medical conditions, obtain and improve their developmental milestones, achieving greater functionality and quality of life in the short, medium and long term.https://www.camjol.info/index.php/RMH/article/view/19275muscle hypotoniaprader-willi syndromerehabilitation |
| spellingShingle | Tatiana Martínez Lozano Jessica Henríquez Ascela Vásquez Raxa Aguilar Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso Revista Médica Hondureña muscle hypotonia prader-willi syndrome rehabilitation |
| title | Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso |
| title_full | Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso |
| title_fullStr | Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso |
| title_full_unstemmed | Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso |
| title_short | Síndrome de Prader-Willi, bajo el enfoque de la rehabilitación. Reporte de caso |
| title_sort | sindrome de prader willi bajo el enfoque de la rehabilitacion reporte de caso |
| topic | muscle hypotonia prader-willi syndrome rehabilitation |
| url | https://www.camjol.info/index.php/RMH/article/view/19275 |
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