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

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.

• Authors: Elisa Testani, Emanuele Scarano, Chiara Leoni, Serena Dittoni, Anna Losurdo, Salvatore Colicchio, Valentina Gnoni, Catello Vollono, Giuseppe Zampino, Gaetano Paludetti, Giacomo Della Marca
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 8 Pg. 2029-35 (Aug 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 24715708 (Publication Type: Case Reports, Journal Article, Review)
• Copyright: © 2014 Wiley Periodicals, Inc.

Topics

• Adenoidectomy
• Brachydactyly
• Child, Preschool
• Facies
• Female
• Fingers (abnormalities)
• Humans
• Phenotype
• Polysomnography
• Pycnodysostosis (complications, diagnosis)
• Sleep Apnea, Obstructive (diagnosis, etiology, surgery)
• Tonsillectomy