Introduction. Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder with neurologic, metabolic, endocrine and behavioral disturbances. The usual consequence of this is numerous respiratory disorders, most of the times it is obstructive sleep apnoea even without severe obesity. Even during the day lungs are not sufficiently ventilated. This occurs because of congenital muscular hypotonia, failing respiratory muscles, scoliosis, kyphoscoliosis or frequently - obesity. Also, those patients have smaller upper respiratory tract diameter, which turns into even smaller because of muscular hypotonia, specific facial features and sometimes adenoid or tonsillar hypertrophy. To reduce the incidence of sleep disordered breathing adenotonsillectomy is the first choice treatment, although it sometimes requires continuous positive airway pressure (CPAP) therapy.
Methods: case report and a short literature review.
Case report. We report a case of a patient with PWS. Obstructive sleep apnoea was diagnosed at the age of 12 years. Polisomnography revealed that apnoea-hypopnoea index was 159, obstructive sleep apnoea predominated all sleep disturbances. Rapid eye movement (REM) sleep was not observed. After starting non-invasive continuous positive airway pressure therapy patient started feeling better, daytime sleepiness disappeared, patient started a diet. A month after starting a therapy he has not gained any weight. We discuss any problems that we experienced starting treatment.
Conclusion. Only after overcoming all challenges we can help our patients raise their quality of life.
