Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation.
Della Marca, G., Scarano, E., Leoni, C., Dittoni, S., Losurdo, A., Testani, E., Colicchio, S., Gnoni, V., Vollono, C., Zampino, G., Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy, <<SLEEP & BREATHING>>, 2012; 16 (1): 5-10. [doi:10.1007/s11325-010-0479-4] [http://hdl.handle.net/10807/7521]
Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy
Della Marca, Giacomo;Scarano, Emanuele;Leoni, Chiara;Dittoni, Serena;Losurdo, Anna;Testani, Elisa;Colicchio, Salvatore;Gnoni, Valentina;Vollono, Catello;Zampino, Giuseppe
2012
Abstract
Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation.
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