title: Obstructive sleep apnea in Costello syndrome.
abstract: Costello syndrome (CS) was initially described by Costello in 1971; it is caused by a germline mutation in HRAS proto-oncogene. The aim of the present study was to evaluate the respiratory activity during sleep in a group of subjects with CS. We studied 10 consecutive patients, 4 males and 6 females, aged 3-29 years, affected by CS. All patients underwent clinical, neurological, otholaryngologic and radiologic evaluation, and a full-night polysomnography in the sleep laboratory. Polysomnography showed that seven patients presented a relevant number of respiratory events of obstructive type during sleep. The apnea-hypopnea index (AHI) ranged from 0 to 19.2 events per hour (mean index = 7.5 +/- 6.9 events/hr). In one patient AHI was not evaluable because of tracheostomy. Apnea induced mild or moderate hemoglobin desaturations (mean of lowest SpO2 values = 85.4 +/- 5.5%). Only sporadic respiratory pauses of central type were observed (mean number of central apnea per study: 7.2 +/- 6.8 events/hr). Sleep structure was fragmented, with a high number of awakenings (mean number of awakenings was 13.2 +/- 8.1; of these, 4.8 +/- 2.5 lasted longer than 2 min). In all patients, otolaryngologic and radiologic observations revealed one or more sites of narrowing in the upper airways. Our results suggest that Costello patients have a high prevalence of obstructive sleep-related respiratory disorders, which need to be assessed by means of polysomnography.
authors.affiliation: Department of Neuroscience, Catholic University, Rome, Italy. dellamarca@rm.unicatt.it
authors.forename: Giacomo
authors.initials: G
authors.lastname: Della Marca
authors.forename: Isabella
authors.initials: I
authors.lastname: Vasta
authors.forename: Emanuele
authors.initials: E
authors.lastname: Scarano
authors.forename: Mario
authors.initials: M
authors.lastname: Rigante
authors.forename: Emma
authors.initials: E
authors.lastname: De Feo
authors.forename: Paolo
authors.initials: P
authors.lastname: Mariotti
authors.forename: Marco
authors.initials: M
authors.lastname: Rubino
authors.forename: Catello
authors.initials: C
authors.lastname: Vollono
authors.forename: Gioacchino Francesco
authors.initials: GF
authors.lastname: Mennuni
authors.forename: Pietro
authors.initials: P
authors.lastname: Tonali
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zampino
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology / Q000503:physiopathology*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005183:Failure to Thrive / Q000473:pathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology; D008297:Male; D009669:Nose Neoplasms / Q000473:pathology; D010212:Papilloma / Q000473:pathology; D017286:Polysomnography / Q000379:methods; D000090063:Proto-Oncogene Mas; D012137:Respiratory System / Q000503:physiopathology; D020181:Sleep Apnea, Obstructive / Q000473:pathology / Q000503:physiopathology*; D012894:Sleep Stages / Q000502:physiology; D013577:Syndrome