Delayed diagnosis of Prader-Willi syndrome in a 24 year-old patient

Abstract

Background: Prader-Willi syndrome (PWS) is the most common known genetic cause of life-threatening obesity in children. The purpose of the study was to present the case of a delayed diagnosis of PWS in a 24-year-old male and the importance of an early PWS diagnosis as well as behavioral and institutional treatment issues. Case Report: A young man presented with a history of hyperphagia, severe obesity, and mental retardation. From his history, laboratory data, and molecular analysis using a DNA marker it was decided that he was affected by PWS. Conclusions: As healthcare professionals, we emphasize the need for approaching each person who has PWS as an individual and to be sensitive to traits and choose the most appropriate therapeutic approach. © The American Journal of Case Reports, 2010.