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Manifestaciones clínicas asociadas al síndrome de Prader-Willi: Revisión Descriptiva
Resumen
RESUMEN
El síndrome de Prader–Willi (SPW) es un trastorno genético, que afecta el neurodesarrollo que, a pesar de su baja frecuencia, merece ser considerado como un trastorno de relevancia clínica al ser la causa más frecuente de obesidad de origen genético. Las manifestaciones clínicas que derivan de SPW tienen origen en la desregulación hipotalámica, por lo cual, comprendiendo la trascendencia e implicación de la afectación hipotalámica, puede comprenderse la amplia gama de manifestaciones que pueden presentarse con severidad variable y cuyas complicaciones su vez la afectación a la salud y socialización a largo plazo afectando la calidad de vida de los pacientes con SPW. Un diagnóstico preciso permite distinguir este síndrome de otros trastornos genéticos y de otras patologías que afectan la función hipotalámica a la vez que permite estimar la gravedad de las manifestaciones y el riesgo de repetición en una misma familia. Por ello, la presente revisión descriptiva se ofrece con el objetivo de describir las manifestaciones clínicas del síndrome de Prader-Willi que orienten la sospecha clínica, las similitudes que presenta este síndrome con otros trastornos, así como presentar las técnicas de diagnóstico disponibles que permiten orientar adecuadamente el abordaje de los pacientes y facilitar su manejo integral oportunamente.
ABSTRACT:
Prader-Willi syndrome (PWS) is a genetic disorder that affects neurodevelopment, which, despite its low frequency, deserves to be considered a clinically relevant disorder since it is the most 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.
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