title: Pycnodysostosis with extreme sleep apnea: a possible alternative to tracheotomy.
abstract: OBJECTIVE
  Pycnodysostosis (OMIM:265800) is an autosomal recessive genetic disorder due to a mutation in the cathepsin K gene, which causes a decrease of the bone turnover and a deterioration of the bone structure. Our aim was to describe a 5 year-old patient affected by pycnodysostosis, associated with an extremely severe obstructive sleep apnea syndrome, who was treated effectively with a combination of upper airway surgery and positive pressure ventilation.
  
  
  METHODS
  A 5 year-old child affected by pycnodysostosis was referred to us for failure to thrive, facial dysmorphisms and respiratory disorders, and who developed an extremely severe sleep apnea syndrome.
  
  
  RESULTS
  Polysomnography showed extremely severe OSAS (AHI = 81.6 events/hour). The child was treated successfully with a combination of adenotonsillectomy, uvulo-palato-pharingo plasty (UPPP), followed by positive pressure ventilation. Polysomnographic recordings confirmed the striking reduction of obstructive respiratory events during sleep (from 81.6 to 12.3 events/hour). Lateral skull Rx and cephalometric measures showed that the Posterior Airway Space (PAS) increased from 3 to 19 mm. The decision to perform UPPP in association with adeno-tonsillectomy was motivated by the presence of palatal obstruction, caused by hypertrophic and prolapsed soft tissue.
  
  
  CONCLUSIONS
  Our observations suggest that a conservative surgical treatment, consisting of adenotonsillectomy plus UPPP, may increases the patency of the upper airway, both at palatal and pharyngeal level. The combination of adenotonsillectomy plus UPPP, followed by CPAP ventilation, may avoid tracheotomy in very severe OSAS patients.
authors.affiliation: Department of Neurosciences, Catholic University, Policlinico Universitario A. Gemelli, Rome, Italy. dellamarca@rm.unicatt.it
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.forename: Emanuele
authors.initials: E
authors.lastname: Scarano
authors.forename: Chiara
authors.initials: C
authors.lastname: Leoni
authors.forename: Serena
authors.initials: S
authors.lastname: Dittoni
authors.forename: Anna
authors.initials: A
authors.lastname: Losurdo
authors.forename: Elisa
authors.initials: E
authors.lastname: Testani
authors.forename: Salvatore
authors.initials: S
authors.lastname: Colicchio
authors.forename: Valentina
authors.initials: V
authors.lastname: Gnoni
authors.forename: Catello
authors.initials: C
authors.lastname: Vollono
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
mesh_terms: D000234:Adenoids / Q000601:surgery; D002508:Cephalometry; D003131:Combined Modality Therapy; D045422:Continuous Positive Airway Pressure; D005500:Follow-Up Studies; D006801:Humans; D010160:Palate, Soft / Q000601:surgery; D017286:Polysomnography; D058631:Pycnodysostosis / Q000150:complications / Q000628:therapy*; D020181:Sleep Apnea, Obstructive / Q000209:etiology / Q000628:therapy*; D014068:Tonsillectomy; D014140:Tracheotomy; D014609:Uvula / Q000601:surgery