Morbid obesity in an adolescent with Prader-Willi syndrome

Prader- Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral ch...

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Autores principales: Santos,Vitorino Modesto dos, Henrique de Paula,Fernando, Osterne,Ernesto Misael Cintra, Nery,Natalia Solón, Turra,Thiago Zavascki
Lenguaje:English
Publicado: Sociedad Médica de Santiago 2009
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Acceso en línea:http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200012
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spelling oai:scielo:S0034-988720090002000122009-06-10Morbid obesity in an adolescent with Prader-Willi syndromeSantos,Vitorino Modesto dosHenrique de Paula,FernandoOsterne,Ernesto Misael CintraNery,Natalia SolónTurra,Thiago Zavascki Edema Fluoxetine Obesity, morbid Prader-Willi syndrome Prader- Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m², that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels ofblood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high bloodpressure and respiratory failure, which needed intensive care support. Moreover, sequéis and clear signs of recent selfinjuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader- Willi syndrome are emphasized.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.137 n.2 20092009-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200012en10.4067/S0034-98872009000200012
institution Scielo Chile
collection Scielo Chile
language English
topic Edema
Fluoxetine
Obesity, morbid
Prader-Willi syndrome
spellingShingle Edema
Fluoxetine
Obesity, morbid
Prader-Willi syndrome
Santos,Vitorino Modesto dos
Henrique de Paula,Fernando
Osterne,Ernesto Misael Cintra
Nery,Natalia Solón
Turra,Thiago Zavascki
Morbid obesity in an adolescent with Prader-Willi syndrome
description Prader- Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15qll-ql3), often due to deletions or uniparental disomy The syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavioral changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. We present a 17year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m², that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels ofblood urea, creatinine and aminotransferases, in addition to hyperkalemia and hyperuricemia. She had been in regular use of fluoxetine during the last six months, and evolved with severe high bloodpressure and respiratory failure, which needed intensive care support. Moreover, sequéis and clear signs of recent selfinjuries were observed in her trunk, forearms and hands. The findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader- Willi syndrome are emphasized.
author Santos,Vitorino Modesto dos
Henrique de Paula,Fernando
Osterne,Ernesto Misael Cintra
Nery,Natalia Solón
Turra,Thiago Zavascki
author_facet Santos,Vitorino Modesto dos
Henrique de Paula,Fernando
Osterne,Ernesto Misael Cintra
Nery,Natalia Solón
Turra,Thiago Zavascki
author_sort Santos,Vitorino Modesto dos
title Morbid obesity in an adolescent with Prader-Willi syndrome
title_short Morbid obesity in an adolescent with Prader-Willi syndrome
title_full Morbid obesity in an adolescent with Prader-Willi syndrome
title_fullStr Morbid obesity in an adolescent with Prader-Willi syndrome
title_full_unstemmed Morbid obesity in an adolescent with Prader-Willi syndrome
title_sort morbid obesity in an adolescent with prader-willi syndrome
publisher Sociedad Médica de Santiago
publishDate 2009
url http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872009000200012
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