Prader-Willi Syndrome. About a Case
Prader-Willi syndrome is a rare genetic disease, characterized by hypothalamic-pituitary anomalies, which presents with severe hypotonia during the neonatal period and the first two years of life, with hyperphagia with a high risk of developing morbid obesity in childhood and adulthood; as well as l...
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| Format: | Article |
| Language: | Spanish |
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Universidad de las Ciencias Médicas de Cienfuegos
2021-04-01
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| Series: | Revista Finlay |
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| Online Access: | https://revfinlay.sld.cu/index.php/finlay/article/view/869 |
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| author | Carlos Enrique Cruz Carrazana Claudia García Carrazana |
| author_facet | Carlos Enrique Cruz Carrazana Claudia García Carrazana |
| author_sort | Carlos Enrique Cruz Carrazana |
| collection | DOAJ |
| description | Prader-Willi syndrome is a rare genetic disease, characterized by hypothalamic-pituitary anomalies, which presents with severe hypotonia during the neonatal period and the first two years of life, with hyperphagia with a high risk of developing morbid obesity in childhood and adulthood; as well as learning difficulties and serious behavioral and / or psychiatric problems. A 17-years-old patient with white skin color is presented. The main manifestations of the patient showed: deviation of the palpebral fissure and alterations in the diameter, small hands and feet, obesity, hypogenitalism, diabetes mellitus, muscular dysfunction, mental deficiency, short stature, among others. The clinical criteria and results of complementary studies were compatible with the diagnosis of Prader-Willi syndrome. This case is presented because it is necessary to describe the clinical and genetic characteristics of patients with Prader-Willi syndrome, since it is a rare genetic disease with important compromise for the future life of those who suffer from it. |
| format | Article |
| id | doaj-art-f992b6fd713c4b08a8fd57bb8cfbe335 |
| institution | Kabale University |
| issn | 2221-2434 |
| language | Spanish |
| publishDate | 2021-04-01 |
| publisher | Universidad de las Ciencias Médicas de Cienfuegos |
| record_format | Article |
| series | Revista Finlay |
| spelling | doaj-art-f992b6fd713c4b08a8fd57bb8cfbe3352025-01-30T21:22:00ZspaUniversidad de las Ciencias Médicas de CienfuegosRevista Finlay2221-24342021-04-01112207211500Prader-Willi Syndrome. About a CaseCarlos Enrique Cruz Carrazana0Claudia García Carrazana1Instituto Superior de Ciencias Médicas de Villa Clara. Villa Clara.Instituto Superior de Ciencias Médicas de Villa Clara. Villa Clara.Prader-Willi syndrome is a rare genetic disease, characterized by hypothalamic-pituitary anomalies, which presents with severe hypotonia during the neonatal period and the first two years of life, with hyperphagia with a high risk of developing morbid obesity in childhood and adulthood; as well as learning difficulties and serious behavioral and / or psychiatric problems. A 17-years-old patient with white skin color is presented. The main manifestations of the patient showed: deviation of the palpebral fissure and alterations in the diameter, small hands and feet, obesity, hypogenitalism, diabetes mellitus, muscular dysfunction, mental deficiency, short stature, among others. The clinical criteria and results of complementary studies were compatible with the diagnosis of Prader-Willi syndrome. This case is presented because it is necessary to describe the clinical and genetic characteristics of patients with Prader-Willi syndrome, since it is a rare genetic disease with important compromise for the future life of those who suffer from it.https://revfinlay.sld.cu/index.php/finlay/article/view/869enfermedades genéticas congénitasenfermedad rarainformes de casos |
| spellingShingle | Carlos Enrique Cruz Carrazana Claudia García Carrazana Prader-Willi Syndrome. About a Case Revista Finlay enfermedades genéticas congénitas enfermedad rara informes de casos |
| title | Prader-Willi Syndrome. About a Case |
| title_full | Prader-Willi Syndrome. About a Case |
| title_fullStr | Prader-Willi Syndrome. About a Case |
| title_full_unstemmed | Prader-Willi Syndrome. About a Case |
| title_short | Prader-Willi Syndrome. About a Case |
| title_sort | prader willi syndrome about a case |
| topic | enfermedades genéticas congénitas enfermedad rara informes de casos |
| url | https://revfinlay.sld.cu/index.php/finlay/article/view/869 |
| work_keys_str_mv | AT carlosenriquecruzcarrazana praderwillisyndromeaboutacase AT claudiagarciacarrazana praderwillisyndromeaboutacase |