title: The role of nasal CPAP in obstructive sleep apnoea syndrome due to mandibular hypoplasia.
abstract: Melnick Needles syndrome (MNS), Treacher Collins syndrome (TCS) and Pierre Robin syndrome (PRS) are congenital abnormalities with characteristic facial appearances that include micrognathia. A 20-year-old girl with MNS, a 16-year-old boy with TCS and a 12-year-old girl with PRS attended the sleep apnoea clinic at our institution at different times. Diagnostic sleep studies were initially performed on all three patients to confirm the diagnosis of obstructive sleep apnoea syndrome (OSAS). They subsequently commenced nasal CPAP (nCPAP) treatment and their progress was followed. A limited sleep study on the patient with MNS demonstrated moderate/severe OSAS with an AHI of 33 events/h. Commencement of nCPAP resulted in symptomatic improvement. Overnight oximetry in the patient with TCS showed repeated desaturation to SpO2<90%. Subsequent treatment by nCPAP almost completely abolished the desaturation events. Overnight polysomnography in the patient with PRS demonstrated severe OSAS with an AHI of 49 events/h. After 3 years of nCPAP therapy, this patient requested discontinuation of treatment. Subsequent polysomnography without nCPAP revealed an AHI of <5 events/h. The use of nCPAP in the patients with MNS and TCS resulted in effective control of their sleep abnormalities. Mandibular growth and enlargement of the posterior airway space led to resolution of OSAS in the patient with PRS. There is a definite role for nCPAP therapy in patients with congenital micrognathia and OSAS. The use of nCPAP may obviate the need for more invasive corrective surgery for OSAS and is not necessarily a life-long requirement.
authors.affiliation: Department of Respiratory Medicine, St. Vincent's University Hospital, Dublin, Ireland. stanley.miller@leedsth.nhs.uk
authors.forename: Stanley D W
authors.initials: SD
authors.lastname: Miller
authors.forename: Senan F
authors.initials: SF
authors.lastname: Glynn
authors.forename: John L
authors.initials: JL
authors.lastname: Kiely
authors.forename: Walter T
authors.initials: WT
authors.lastname: McNicholas
mesh_terms: D000293:Adolescent; D002648:Child; D045422:Continuous Positive Airway Pressure; D005260:Female; D006801:Humans; D008297:Male; D008334:Mandible / Q000002:abnormalities*; D008342:Mandibulofacial Dysostosis / Q000150:complications; D008844:Micrognathism / Q000150:complications* / Q000209:etiology; D010009:Osteochondrodysplasias / Q000150:complications; D010855:Pierre Robin Syndrome / Q000150:complications; D017286:Polysomnography; D020181:Sleep Apnea, Obstructive / Q000209:etiology* / Q000628:therapy*; D016896:Treatment Outcome; D055815:Young Adult