PWS은 임상적, 외견적 특징으로 의심할 수 있으며 세포유전학 및 분자유전학의 발달로 쉽게 진단할 수 있다. 발생 빈도가 문헌상 25,000 중 1명 정도이지만 진단기술의 발달로 실제 빈도는 더 높을 것으로 사료된다. 이 질환의 예후는 비만으로 인한 여러 가지 합병증을 얼마나 잘 조절하느냐에 따라 크게 달라질 수 있다. 1차 진료의를 포함한 모든 분야의 임상의는 이 질환을 조기에 진단하기 위해 임상 진단 기준을 잘 숙지할 필요가 있다고 판단되어 수차례의 진료 병력에도 불구하고 20세 이후에 진단된 전형적인 PWS 증례를 이론적 설명과 함께 보고하는 바이다.
PWS은 임상적, 외견적 특징으로 의심할 수 있으며 세포유전학 및 분자유전학의 발달로 쉽게 진단할 수 있다. 발생 빈도가 문헌상 25,000 중 1명 정도이지만 진단기술의 발달로 실제 빈도는 더 높을 것으로 사료된다. 이 질환의 예후는 비만으로 인한 여러 가지 합병증을 얼마나 잘 조절하느냐에 따라 크게 달라질 수 있다. 1차 진료의를 포함한 모든 분야의 임상의는 이 질환을 조기에 진단하기 위해 임상 진단 기준을 잘 숙지할 필요가 있다고 판단되어 수차례의 진료 병력에도 불구하고 20세 이후에 진단된 전형적인 PWS 증례를 이론적 설명과 함께 보고하는 바이다.
Prader-Willi Syndrome (PWS) is the most common form of obesity caused by genetic abnormalities of chromosome 15. This syndrome can be diagnosed by characteristic clinical features and can be confirmed by methylation-sensitive PCR analysis (MS-PCR). A 22-year old female patient with mental retardatio...
Prader-Willi Syndrome (PWS) is the most common form of obesity caused by genetic abnormalities of chromosome 15. This syndrome can be diagnosed by characteristic clinical features and can be confirmed by methylation-sensitive PCR analysis (MS-PCR). A 22-year old female patient with mental retardation, who had been diagnosed with type 2 diabetes and obesity at the age of 12, visited our clinic for poor glycemic control and progressive visual difficulty. Upon a thorough taking of her history, we found that she had hypotonia and feeding difficulties during her neonatal period, and had not been able to stand up until the age of 5. She showed short stature, severe obesity and delayed puberty. Her characteristic juvenile history, typical facial features, and hypogonadism prompted us to order a MS-PCR specific for PWS and fluorescence in situ hybridization (FISH) cytogenetic analysis. PWS occurs in persons of any race with an estimated prevalence of 1 in 10,000 to 1 in 15,000 and is usually identified in early childhood. Although there are published consensus clinical criteria and an increased interest in typical features of PWS through the mass media, the diagnosis occasionally is delayed until adolescence, and even into adulthood, due to relatively nonspecific clinical findings. Physicians should be attentive to patients with obesity, mental retardation and global developmental delay, regardless of age, and examine their infantile history.
Prader-Willi Syndrome (PWS) is the most common form of obesity caused by genetic abnormalities of chromosome 15. This syndrome can be diagnosed by characteristic clinical features and can be confirmed by methylation-sensitive PCR analysis (MS-PCR). A 22-year old female patient with mental retardation, who had been diagnosed with type 2 diabetes and obesity at the age of 12, visited our clinic for poor glycemic control and progressive visual difficulty. Upon a thorough taking of her history, we found that she had hypotonia and feeding difficulties during her neonatal period, and had not been able to stand up until the age of 5. She showed short stature, severe obesity and delayed puberty. Her characteristic juvenile history, typical facial features, and hypogonadism prompted us to order a MS-PCR specific for PWS and fluorescence in situ hybridization (FISH) cytogenetic analysis. PWS occurs in persons of any race with an estimated prevalence of 1 in 10,000 to 1 in 15,000 and is usually identified in early childhood. Although there are published consensus clinical criteria and an increased interest in typical features of PWS through the mass media, the diagnosis occasionally is delayed until adolescence, and even into adulthood, due to relatively nonspecific clinical findings. Physicians should be attentive to patients with obesity, mental retardation and global developmental delay, regardless of age, and examine their infantile history.
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