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

被引：0

作者：

Kyriazis, Ioannis A. ^{[1
]}

Mendrinos, Dimitrios ^{[2
]}

Saridi, Maria ^{[2
]}

Rekliti, Maria ^{[2
]}

Toska, Aikaterini ^{[2
]}

Wozniak, Greta ^{[3
]}

Roupa, Zoe ^{[3
]}

机构：

[1] Asclepe Gen Hosp, Internal Med & Diabet Outpatient Clin, Voula, Greece

[2] Korinthos Gen Hosp, Internal Med Dept, Korinthos, Greece

[3] Univ Thessaly, Med Sch, Larisa, Greece

来源：

AMERICAN JOURNAL OF CASE REPORTS | 2010年 / 11卷

关键词：

genetic syndrom; Prader-Willi Syndrome (PWS); obesity; cryptorchidism;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：50 / 53

页数：4

共 50 条

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