PDF(Pubmed)
Abstract：
Nicolaides-Baraitser syndrome (NCBRS) is a rare disease caused by mutations in the SMRCA2 gene, which affects chromatin remodelling and leads to a wide range of symptoms including microcephaly, distinct facial features, recurrent seizures, and severe mental retardation. Until now, less than 100 cases have been reported.
A 22-month old male infant with NCBRS underwent elective cleft palate surgery. The anaesthetists were challenged by the physiological condition of the patient: narrow face, very small mouth, mild tachypnea, slight sternal retractions, physical signs of partial monosomy 9p, and plagiocephalus, midface hypoplasia, V-shaped cleft palate, enhanced muscular hypotension, dysplastic kidneys (bilateral, estimated GFR: approx. 40 ml/m2), nocturnal oxygen demand, and combined apnea. In addition, little information was available about interaction of the NCBRS displayed by the patient and anaesthesia medications.
The cleft palate was successfully closed using the bridge flap technique. Overall, we recommend to perform a trial video assisted laryngoscopy in the setting of spontaneous breathing with deep inhalative anaesthesia before administration of muscle relaxation to detect any airway difficulties while remaining spontaneoues breathing and protective reflexes.
A 22-month old male infant with NCBRS underwent elective cleft palate surgery. The anaesthetists were challenged by the physiological condition of the patient: narrow face, very small mouth, mild tachypnea, slight sternal retractions, physical signs of partial monosomy 9p, and plagiocephalus, midface hypoplasia, V-shaped cleft palate, enhanced muscular hypotension, dysplastic kidneys (bilateral, estimated GFR: approx. 40 ml/m2), nocturnal oxygen demand, and combined apnea. In addition, little information was available about interaction of the NCBRS displayed by the patient and anaesthesia medications.
The cleft palate was successfully closed using the bridge flap technique. Overall, we recommend to perform a trial video assisted laryngoscopy in the setting of spontaneous breathing with deep inhalative anaesthesia before administration of muscle relaxation to detect any airway difficulties while remaining spontaneoues breathing and protective reflexes.
摘要：
Nicolaides-Baraitser综合征（NCBRS）是一种由SMRCA2基因突变引起的罕见疾病，这会影响染色质重塑并导致各种症状，包括小头畸形，不同的面部特征,反复发作,和严重的智力低下。直到现在,报告的病例不到100例。
一名22个月大的NCBRS男婴接受了选择性腭裂手术。麻醉师受到患者生理状况的挑战：狭窄的脸，嘴巴很小,轻度呼吸急促,轻微的胸骨缩回,9p部分一元性的物理体征，和plagiocephalus,脸中部发育不全,V形腭裂,增强的肌肉低血压，发育不良的肾脏（双侧，估计GFR：约。40ml/m2),夜间需氧量,和合并的呼吸暂停。此外,关于患者显示的NCBRS与麻醉药物之间相互作用的信息很少.
使用桥式皮瓣技术成功闭合了left裂。总的来说,我们建议在给予肌肉松弛之前,在采用深度吸入麻醉的自主呼吸的情况下进行试验性视频辅助喉镜检查,以检测任何气道困难,同时保持自主呼吸和保护性反射.
一名22个月大的NCBRS男婴接受了选择性腭裂手术。麻醉师受到患者生理状况的挑战：狭窄的脸，嘴巴很小,轻度呼吸急促,轻微的胸骨缩回,9p部分一元性的物理体征，和plagiocephalus,脸中部发育不全,V形腭裂,增强的肌肉低血压，发育不良的肾脏（双侧，估计GFR：约。40ml/m2),夜间需氧量,和合并的呼吸暂停。此外,关于患者显示的NCBRS与麻醉药物之间相互作用的信息很少.
使用桥式皮瓣技术成功闭合了left裂。总的来说,我们建议在给予肌肉松弛之前,在采用深度吸入麻醉的自主呼吸的情况下进行试验性视频辅助喉镜检查,以检测任何气道困难,同时保持自主呼吸和保护性反射.
