PDF(Pubmed)
Abstract：
BACKGROUND: The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia.
METHODS: We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS. He had an intellectual disability, characteristic facial dysmorphism, tracheo/laryngomalacia, patent foramen ovale, and cryptorchidism related to KdVS. Due to the complex condition especially the presence of tracheo/laryngomalacia, we took some special measures, including reducing the amount of long-acting opioid, keeping the spontaneous breath, performing a caudal block, and applying the laryngeal mask. But the laryngeal mask was changed to an endotracheal tube because it failed to provide adequate ventilation. The boy experienced mild laryngeal spasm and hypoxia after extubation, but lateral position and etomidate eased his breathing problem and re-intubation was avoided. It is indicated that anesthesia management for patients with orphan disease is a real challenge for all anesthesia providers.
CONCLUSIONS: The Koolen-de Vries syndrome is a relatively new orphan disease involving multiple systems. Keeping spontaneous breath, evaluating airway potency to anesthetics, applying endotracheal tube, and post-extubation lateral or prone position may be helpful for airway management for patient with hypotonia and tracheo/laryngomalacia. KdVS patient needs prolonged post-anesthesia monitoring and/or medication for airway complications.
METHODS: We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS. He had an intellectual disability, characteristic facial dysmorphism, tracheo/laryngomalacia, patent foramen ovale, and cryptorchidism related to KdVS. Due to the complex condition especially the presence of tracheo/laryngomalacia, we took some special measures, including reducing the amount of long-acting opioid, keeping the spontaneous breath, performing a caudal block, and applying the laryngeal mask. But the laryngeal mask was changed to an endotracheal tube because it failed to provide adequate ventilation. The boy experienced mild laryngeal spasm and hypoxia after extubation, but lateral position and etomidate eased his breathing problem and re-intubation was avoided. It is indicated that anesthesia management for patients with orphan disease is a real challenge for all anesthesia providers.
CONCLUSIONS: The Koolen-de Vries syndrome is a relatively new orphan disease involving multiple systems. Keeping spontaneous breath, evaluating airway potency to anesthetics, applying endotracheal tube, and post-extubation lateral or prone position may be helpful for airway management for patient with hypotonia and tracheo/laryngomalacia. KdVS patient needs prolonged post-anesthesia monitoring and/or medication for airway complications.
摘要：
背景：Koolen-deVries综合征（KdVS）是一种相对较新的罕见疾病，由Koolen于2006年首次报道的17q21.31微缺失引起。KdVS的典型表型包括张力减退，发育迟缓,中度智力残疾，和特征性的面部畸形。到目前为止,仅有一例关于诊断为KdVS的患者的麻醉管理报告。这是一个2岁的女孩在麻醉下经历了MRI检查。
方法：我们描述了一个21个月大的男孩，他计划在全身麻醉下接受诊断为KdVS的睾丸固定术。他有智力障碍，特征性面部畸形，气管/喉软化症,卵圆孔未闭,和与KdVS有关的隐睾。由于复杂的情况，特别是气管/喉软化的存在，我们采取了一些特殊措施，包括减少长效阿片类药物的数量，保持自发的呼吸，进行尾部阻滞,应用喉罩。但是由于喉罩无法提供足够的通气，因此将其改为气管内导管。男孩在拔管后出现轻度喉痉挛和缺氧，但侧卧位和依托咪酯缓解了他的呼吸问题，避免了重新插管。这表明，孤儿病患者的麻醉管理对所有麻醉提供者来说都是一个真正的挑战。
结论：Koolen-deVries综合征是一种相对较新的孤儿疾病，涉及多个系统。保持自发呼吸，评估气道对麻醉剂的效力，应用气管导管，拔管后侧卧位或俯卧位可能有助于低张力和气管/喉软化患者的气道管理。KdVS患者需要长时间的麻醉后监测和/或药物治疗气道并发症。
方法：我们描述了一个21个月大的男孩，他计划在全身麻醉下接受诊断为KdVS的睾丸固定术。他有智力障碍，特征性面部畸形，气管/喉软化症,卵圆孔未闭,和与KdVS有关的隐睾。由于复杂的情况，特别是气管/喉软化的存在，我们采取了一些特殊措施，包括减少长效阿片类药物的数量，保持自发的呼吸，进行尾部阻滞,应用喉罩。但是由于喉罩无法提供足够的通气，因此将其改为气管内导管。男孩在拔管后出现轻度喉痉挛和缺氧，但侧卧位和依托咪酯缓解了他的呼吸问题，避免了重新插管。这表明，孤儿病患者的麻醉管理对所有麻醉提供者来说都是一个真正的挑战。
结论：Koolen-deVries综合征是一种相对较新的孤儿疾病，涉及多个系统。保持自发呼吸，评估气道对麻醉剂的效力，应用气管导管，拔管后侧卧位或俯卧位可能有助于低张力和气管/喉软化患者的气道管理。KdVS患者需要长时间的麻醉后监测和/或药物治疗气道并发症。
