@entity18303 with XXXX : a possible alternative to tracheotomy.

@entity1 @entity3336 @entity387 @entity18303 @entity11360 @entity1184 @entity27 @entity79 @entity74 @entity1576 @entity2419
PURPOSE: @entity18303 (OMIM:265800) is an @entity74 due to a mutation in the @entity3336 gene, which causes a @entity79 and a deterioration of the bone structure. Our aim was to describe a 5 year-old @entity1 affected by @entity18303 , associated with an extremely severe @entity27 , who was treated effectively with a combination of upper airway surgery and positive pressure ventilation. METHODS: A 5 year-old @entity1 affected by @entity18303 was referred to us for @entity11360 and @entity1576 , and who developed an extremely severe @entity387 . RESULTS: Polysomnography showed extremely severe OSAS (AHI = 81.6 events/hour). The @entity1 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 @entity2419 , caused by @entity1184 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 @entity1 .
