Johnson Mark Zachary, Mullins Cormac Francis, Keane Declan, Browne Ingrid
Department of Anaesthesia, Mater Misericordiae University Hospital, Dublin, Ireland.
Department of Anaesthesia, National Maternity Hospital, Dublin, Ireland.
BMJ Case Rep. 2017 Dec 13;2017:bcr-2017-221334. doi: 10.1136/bcr-2017-221334.
Melnick-Needles syndrome (M-NS) is a rare genetic disorder which primarily affects skeletal developments. M-NS may also affect the cardiorespiratory and renal systems. A 35 kg patient presented complaining of abdominal pain. Following a positive pregnancy test and ultrasound examination, she was diagnosed with a ruptured ectopic pregnancy. She had a significant background history of M-NS, obstructive sleep apnoea (with narrow gauge tracheostomy in situ), obstructive lung disease and scoliosis. She received fluid resuscitation, and the case was managed using an open salpingectomy and clot evacuation under combined spinal/epidural anaesthesia. Anticipated difficulty in securing a definitive airway was pivotal to choosing a regional anaesthetic technique. The operation was successful and the patient recovered well. This was a unique surgical and anaesthetic challenge due to abnormal facial, spinal and abdominal morphology compounded by the time-critical emergency nature of the case. Individually tailored perioperative management is frequently required for patients with rare syndromes.
梅尔尼克-尼德尔斯综合征(M-NS)是一种罕见的遗传性疾病,主要影响骨骼发育。M-NS也可能影响心肺和肾脏系统。一名35公斤重的患者因腹痛前来就诊。妊娠试验呈阳性并经超声检查后,她被诊断为异位妊娠破裂。她有显著的M-NS病史、阻塞性睡眠呼吸暂停(已行窄径气管切开术)、阻塞性肺病和脊柱侧弯。她接受了液体复苏,并在腰麻/硬膜外联合麻醉下通过开腹输卵管切除术和清除血块来处理该病例。预计在确保安全气道方面存在困难是选择区域麻醉技术的关键因素。手术成功,患者恢复良好。由于面部、脊柱和腹部形态异常,再加上该病例具有时间紧迫的紧急性质,这是一个独特的外科和麻醉挑战。对于患有罕见综合征的患者,通常需要进行个性化的围手术期管理。