Ribeiro Viviane Barrada, Faria Leonardo Teixeira Ribeiro Alonso de, Machado Roberta de Lima, Barcellos Bruno Mendonça, Resende Marco Antonio Cardoso de, Videira Rogério Luiz da Rocha
Universidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, Brasil.
Universidade Federal Fluminense (UFF), Hospital Universitário Antônio Pedro, Niterói, RJ, Brasil.
Braz J Anesthesiol. 2020 Jan-Feb;70(1):51-54. doi: 10.1016/j.bjan.2019.10.002. Epub 2020 Feb 19.
Cockayne syndrome is an autosomal recessive multi-systemic disorder due to DNA repair failure. It was originally described in 1936 in children of small stature, retinal atrophy and deafness, characterized by dwarfism, cachexia, photosensitivity, premature aging and neurologic deficits. The most typical feature is described as birdlike facies: protruding maxilla, facial lipoatrophy, sunken eyes, large ears and thin nose. Difficult airway management with subglottic stenosis and risk of gastric content aspiration has been described. Although the clinical characteristics of Cockayne syndrome have been well described in pediatric publications, there is only one report in the literature on anesthesia for an obstetric patient. We report the case of a pregnant patient diagnosed with Cockayne syndrome, submitted successfully to spinal anesthesia for a cesarean section due to cephalopelvic disproportion. In view of the difficult decision between inducing general anesthesia in a patient with a likely difficult airway, or neuraxial anesthesia in a patient with cardiovascular, respiratory and neurocognitive limitations, we suggest tailored management to reach the best results for the mother and newborn.
科凯恩综合征是一种由于DNA修复功能障碍引起的常染色体隐性多系统疾病。它最初于1936年被描述,患者表现为身材矮小、视网膜萎缩和耳聋,特征包括侏儒症、恶病质、光敏性、早衰和神经功能缺损。最典型的特征被描述为鸟样面容:上颌突出、面部脂肪萎缩、眼窝凹陷、耳朵大且鼻子细。已有文献报道了伴有声门下狭窄的困难气道管理以及胃内容物误吸的风险。尽管科凯恩综合征的临床特征在儿科文献中有详尽描述,但关于产科患者麻醉的文献报道仅有一例。我们报告了一名被诊断为科凯恩综合征的孕妇病例,该患者因头盆不称成功接受了剖宫产脊髓麻醉。鉴于在可能存在困难气道的患者中诱导全身麻醉,与在存在心血管、呼吸和神经认知功能受限的患者中实施神经轴麻醉之间难以抉择,我们建议采用个性化管理,以实现对母亲和新生儿的最佳效果。