Obstructive sleep apnoea (OSA) is a highly prevalent sleep disorder that affects 2% of female and 4% of male population. The major risk factors for OSA is obesity. Less common causes of OSA may be various congenital craniofacial anomalies. The presented case report has introduced an adult male patient with Crouzon syndrome (CS), rare genetic disease leading to craniofacial deformities, who was referred to sleep laboratory with the suspicion of sleep disordered breathing.
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The patient was a 28 years old man who was diagnosed with CS at the age of 2. He underwent craniotomy during childhood. He often suffered from headaches and vertigo, was regularly seen by neurologist and also by psychiatrist because of depression. He was nonsmoker, worked as IT specialist. His mother died at the age of 38 due to sudden death during sleep, he did not know the exact reason.
Symptoms: were lasting for one year: severe loud snoring and witnessed apnoeic episodes during night present every night, excessive daytime sleepiness (EDS), often headaches.
Eupnea, acyanosis, turricephaly, facial dysmorphism, exophthalmos (Figure 1 and 2).
Weight: 85 kg, height 175 cm, BMI: 27.76 kg/m2.
Overnight polysomnography showed an apnoea–hypopnoea index (AHI = average number of apnoeic and hypopnoeic episodes per hour of sleep) of 91.4 episodes/hour with oxygen desaturation index (ODI) of 91.0 episodes/hour, with severe desaturations of average saturation 87%, minimum saturation was 37%. Dominant type of respiratory episodes were obstructive apnoeic episodes, the longest episode with length of 82 seconds (Figure 3 and 4). Episodes of second degree atrioventricular block, type Mobitz II, were noticed on electroencephalography (ECG) at night (Figure 5).
Nasal continuous positive airway pressure (CPAP) treatment with manual titration of therapeutic pressures was the first choice of treatment (Figure 6 and 7). Initially, the patient suffered from aerophagia but after adjustment of pressure settings AHI and ODI were effectively reduced to 8.8 and to 9.3 episodes/hour. Therapeutic CPAP pressure was 12.5 cmH2O. There were no episodes of heart rhythm disturbances while on CPAP. The patient tolerated CPAP well, subjectively he reported improvement in the quality of sleep and being almost completely refreshed after night sleep. At the control at 3 years his compliance with CPAP remained to be very good.
Obstructive sleep apnoea
Crouzon syndrome is an autosomal dominant genetic disorder caused by mutation in the fibroblast growth factor receptor 2 genes. CS has a prevalence of 1:60 000 live births with male to female preponderance of 3:1. The syndrome is characterized by premature synostosis of coronal and sagittal sutures leading to facial dysmorphism, skull deformities and exophthalmos, mental status is normal. Orofacial manifestations of this disease include maxillary hypoplasia, external nasal deformity and prognathism. Airway distress is a well described feature of this syndrome and both upper and lower airway obstruction may be present in the Crouzon syndrome. Due to airway obstruction as a result of anatomical midfacial hypoplasia, patients with CS are prone to obstructive sleep apnoea with an estimated prevalence between 40 and 85%. For majority of patients, an individual treatment plan is necessary to make as CS often has different phenotypes and different severity of OSA.
Our case report suggest that nasal CPAP treatment was a useful treatment modality of OSA with improvement of nocturnal saturations, normalization of ECG and subjective reduction of daytime OSA symptoms in a middle-aged male patient with Crouzon syndrome.
Authors declare the case report will not be published in any national or international publications.
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citation: Trojová Ivana: Morbus Crouzon and severe Obstructive Sleep Apnoea. Multimedia support in the education of clinical and health care disciplines :: Portal of Pavol Jozef Šafárik University in Košice Faculty of Medicine [online] , [cit. 06. 07. 2020]. Available from WWW: https://portal.lf.upjs.sk/articles.php?aid=344. ISSN 1337-7000.