Abstract

BORGES CAUICH, Rossana et al. Clinical Manifestations Associated with Prader-Willi Syndrome. Rev. biomédica [online]. 2019, vol.30, n.1, pp.13-23.  Epub Sep 06, 2019. ISSN 2007-8447.  https://doi.org/10.32776/revbiomed.v30i1.627.

Prader-Willi syndrome (PWS) is a genetic disorder that affects neurodevelopment, which, despite its low frequency, deserves to be consideredaclinically relevant disorder since it is themost frequent cause of genetically derived obesity. The clinical manifestations that derive from SPW correlate to those from a hypothalamic dysregulation, so that, understanding the importance and implication of the hypothalamic involvement, the wide range of manifestations that can present with variable severity and whose complications in turn affect the health can be understood. and long-term socialization affecting the quality of life of patients with PWS. An accurate diagnosis can discriminate this syndrome from other genetic disorders and from non-genetic pathologies that affect hypothalamic function, while also allowing to estimate the severity in a specific patient and the risk of repetition in other family members. Therefore, the present descriptive review is aimed to describe the clinical manifestations of Prader-Willi syndrome to guide the clinical diagnosis; the signs and symptoms that can differentiate this syndrome from other disorders, as well as presenting a description of the actual diagnostic techniques that can allow a prompt and precise diagnosis, and thus, translate in a comprehensive and timely approach of the patients with PWS.

Keywords : hypotonia; Prader-Willi Syndrome; hyperphagia; hypogonadotropic hypogonadism; craniofacial dymorphisms.

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