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Morbid obesity in an adolescent with Prader-Willi syndrome.

作者信息

Santos Vitorino Modesto Dos, Henrique de Paula Fernando, Osterne Ernesto Misael Cintra, Nery Natalia Solón, Turra Thiago Zavascki

机构信息

Catholic University Medical Course, and Department of Internal Medicine from the Armed Forces Hospital (HFA), Brasilia-DF, Brazil.

出版信息

Rev Med Chil. 2009 Feb;137(2):264-8. Epub 2009 Jun 10.

Abstract

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 17 year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m(2), that was admitted in anasarca, with marked cyanosis, dyspnea and oliguria. She presented high levels of blood 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 blood pressure and respiratory failure, which needed intensive care support. Moreover, sequels and clear signs of recent self-injuries 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.

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