Resumo

CEBALLOS-MACIAS, José Juan et al. Case series: Prader-Willi syndrome with molecular and cytogenetic diagnosis in the Medical Specialities Unit. Rev. sanid. mil. [online]. 2018, vol.72, n.3-4, pp.258-263. ISSN 0301-696X.

Prader-Willi syndrome in a multisystem disorder; it is characterized in childhood by hypotonia, feeding difficulties, developmental delay and genital hypoplasia. In adolescence and adulthood, the problem focuses on behavioral changes, the absence of satiety and mild or moderate mental retardation. Its early diagnosis requires a high clinical suspicion and special studies (methylation studies and fluorescent in situ hybridization). An early detection reduces the morbidity and mortality of patients. There is a clear need for a multidisciplinary approach to facilitate early diagnosis and optimize management and treatment to improve quality of life. There are six cases of SPW that are followed in the Medical Specialties Unit; we report them in order to know the prevalence of PWS, since at present there is no record documenting it.

Palavras-chave : Prader-Willi syndrome; methylation studies; fluorescent in situ hybridization analysis.