Upper airway surgery of obstructive sleep apnea in pycnodysostosis: case report and literature review.
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.
Department of Neurosciences, Catholic University, Rome, Italy.
Elisa
E
Testani
Emanuele
E
Scarano
Chiara
C
Leoni
Serena
S
Dittoni
Anna
A
Losurdo
Salvatore
S
Colicchio
Valentina
V
Gnoni
Catello
C
Vollono
Giuseppe
G
Zampino
Gaetano
G
Paludetti
Giacomo
G
Della Marca
D000233:Adenoidectomy; D059327:Brachydactyly; D002675:Child, Preschool; D019066:Facies; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D010641:Phenotype; D017286:Polysomnography; D058631:Pycnodysostosis / Q000150:complications* / Q000175:diagnosis; D020181:Sleep Apnea, Obstructive / Q000175:diagnosis / Q000209:etiology* / Q000601:surgery*; D014068:Tonsillectomy
OSAS; adenotonsillectomy; palatoplasty; polysomnography; pycnodysostosis; sleep; sleep apnea