Morbid obesity in adolescent with Prader-Willi syndrome

Resumen

The Prader-Willi syndrome is an uncommon multisystem genetic disorder caused by defects of chromosome 15 (15q11-q13), often due to deletions or uniparental disomy. Classically, the syndrome is characterized by neonatal hypotonia, dysmorphic facial features, short stature, motor and mental disabilities, behavior changes, hyperphagia, precocious obesity and hypogonadotropic hypogonadism. A 17-year-old woman, with a previous genetic diagnosis of Prader-Willi syndrome and BMI of 74 Kg/m², 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 authors emphasize the findings of morbid obesity, anasarca, self-injury, hyperuricemia and hypoxemia in Prader-Willi syndrome.