Portal de Periódicos da CAPES

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

2014; Wiley; Volume: 164; Issue: 8 Linguagem: Inglês

10.1002/ajmg.a.36557

1552-4833

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

Craniofacial Disorders and Treatments

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.