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Abstract ▼ AI-Helper

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.

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