Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3½-year-old girl affected by Pycnodysostosis complicated by a severe sleep-related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo-mandibular surgery.

Testani, E., Scarano, E., Leoni, C., Dittoni, S., Losurdo, A., Colicchio, S., Gnoni, V., Vollono, C., Zampino, G., Paludetti, G., Della Marca, G., Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2014; 164A (8): 2029-2035. [doi:10.1002/ajmg.a.36557] [http://hdl.handle.net/10807/60254]

Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review

Testani, Elisa;Scarano, Emanuele;Leoni, Chiara;Dittoni, Serena;Losurdo, Anna;Colicchio, Salvatore;Gnoni, Valentina;Vollono, Catello;Zampino, Giuseppe;Paludetti, Gaetano;Della Marca, Giacomo
2014

Abstract

Pycnodysostosis is an autosomal recessive disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover; a review of the literature suggests that pycnodysostosis is frequently associated with severe respiratory obstruction, which needs surgical treatment. The aim of this paper is to describe the surgical treatment of a 3½-year-old girl affected by Pycnodysostosis complicated by a severe sleep-related respiratory disorder. The surgical treatment, consisting of adenotonsillectomy and palatoplasty, resulted in a striking amelioration of respiratory parameters and increased posterior airway space, and allowed the patient to avoid tracheotomy while awaiting for maxillo-mandibular surgery.
Inglese
Testani, E., Scarano, E., Leoni, C., Dittoni, S., Losurdo, A., Colicchio, S., Gnoni, V., Vollono, C., Zampino, G., Paludetti, G., Della Marca, G., Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review, <<AMERICAN JOURNAL OF MEDICAL GENETICS. PART A>>, 2014; 164A (8): 2029-2035. [doi:10.1002/ajmg.a.36557] [http://hdl.handle.net/10807/60254]
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10807/60254
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