TY - JOUR
T1 - Delayed diagnosis of Prader-Willi syndrome in a 24 year-old patient
AU - Kyriazis, Ioannis A.
AU - Mendrinos, Dimitrios
AU - Saridi, Maria
AU - Rekliti, Maria
AU - Toska, Aikaterini
AU - Wozniak, Greta
AU - Roupa, Zoe
PY - 2010
Y1 - 2010
N2 - 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.
AB - 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.
KW - Cryptorchidism
KW - Genetic syndrom
KW - Obesity
KW - Prader-Willi Syndrome (PWS)
UR - http://www.scopus.com/inward/record.url?scp=78649371450&partnerID=8YFLogxK
M3 - Article
AN - SCOPUS:78649371450
SN - 1941-5923
VL - 11
SP - 50
EP - 53
JO - American Journal of Case Reports
JF - American Journal of Case Reports
ER -
