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Abstract:
Prader-Willi Syndrome (PWS) is caused by different genomic alterations, all related to the inactivation of paternally expressed genes in human chromosome region 15q11-q13. This genetic condition appears not to be inherited, with an incidence of 1 in 25,000 births and a population prevalence of 1 in 50,000, with no differences due to gender nor ethnicities. Due to the fact that PWS is considered a rare disease, often its correct diagnose is delayed many years due to a lack of knowledge and understanding of its etiology by physicians at medical centers, in addition to the presence in this disease of signs and symptoms common to other syndromes, creating an additional challenge which may worsen the prognosis of these individuals. In the present report we describe the case of a 22-year-old Spanish woman, diagnosed with PWS with a genetic study performed at the age of 7, even though the patient had shown the characteristic signs and symptoms of this syndrome since birth. We describe here the different phenotypes associated towith this condition at the different ages, its clinical and genetic diagnosis, and current therapeutic approaches. With the intention of giving visibility to this Syndrome, we have also created a medical documentary entitled "Sindrome Prader-Willi" that can be seen in you tube at: https://youtu.be/TJPTtKanRkw.
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