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

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

Risultato della ricerca: Contributo in rivistaArticolo in rivista

7 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)2029-2035
Numero di pagine7
RivistaAMERICAN JOURNAL OF MEDICAL GENETICS. PART A
Volume164A
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • OSAS
  • adenotonsillectomy
  • palatoplasty
  • polysomnography
  • pycnodysostosis
  • sleep
  • sleep apnea

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