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Revista Cubana de Endocrinología
versão On-line ISSN 1561-2953
Resumo
GONZALEZ FERNANDEZ, Pedro; PIN ARBOLEDAS, Gonzalo e CABRERA PANIZO, Raquel. Prader-Labhart-Willi syndrome and apnea during sleep: Apropos of 3 patients. Rev Cubana Endocrinol [online]. 2004, vol.15, n.2, pp. 0-0. ISSN 1561-2953.
Prader-Labhart-Willi syndrome (PWS) is an entity associated with sleep disordered breathing, which may have fatal consequences for life. Three patients with diagnosis of PWS are presented: 2 males and 1 female. The diagnosis in all of them was confirmed after 2 years of age. The most significant clinical findings were: normal height and body weight at birth and muscular hypotonia. In two patients, obesity began at 2 years of age, and in one at 18 months of age. Acromicria and moderate mental retardation were observed in the three patients. The results of the karyotypes by band technique were 46XY for males and 46XX for females. The two male patients had episodes of sleep apnea (Sleep Apnea Syndrome), which caused their death due to respiratory arrest before being 12 years old. It is recommended the close surveillance of these patients, mainly during respiratory infections and bronchial asthma crises.
Palavras-chave : Prader-Willi; sleep apnea; obesity; sleep.