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.

Management of laryngomalacia in children with congenital syndrome: The role of supraglottoplasty

“…Furthermore, the observation of changing endoscopic findings in this case suggests that the natural course of the respiratory status depends on the underlying mechanism of upper airway obstruction. Della Marca et al [31] found a high prevalence of upper airway obstruction in patients with Costello syndrome. They …”

Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia

“…Group I cases required adequate clinical description and/or photograph. We excluded reviews with limited prenatal history (Lin et al, 2002; Axelrad et al, 2004; Gripp et al, 2005; Aoki et al, 2005; Della Marca et al, 2006; Axelrad et al ., 2007; Schulz et al ., 2008), and mosaicism (Gripp, et al 2006; Sol-Church et al, 2009). We mailed a data collection form to the parents of HRAS mutation positive patients who had been enrolled in an ongoing natural history study of Costello Syndrome (Group III), and also included 3 additional cases cared for by authors..…”

Costello syndrome: a Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations

“…36,37 Seven of 10 individuals ages 3-29 years undergoing polysomnography in the sleep laboratory had obstructive events. 38 Dental abnormalities, including enamel defects, occur frequently. Excessive secretions are often noted.…”