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2018, Number 3-4

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Rev Sanid Milit Mex 2018; 72 (3-4)

Case series: Prader-Willi syndrome with molecular and cytogenetic diagnosis in the Medical Specialities Unit

Ceballos-Macías JJ, Madriz-Prado R, Pérez-Martínez RA, Flores-Real JA, Vargas SJ, Meneses-Pérez AC, Cruz-López JL

Language: Spanish
References: 8
Page: 258-263
PDF size: 212.54 Kb.


ABSTRACT

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.


REFERENCES

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