Schulze-Berge Julia, Pillong Lukas, Busse Birgit, Henn Wolfram, Nourkami-Tutdibi Nasenien, Schmitz Dominik, Hüppe Tobias
Department of Anaesthesiology, Intensive Care and Pain Therapy, Saarland University Medical Centre, Homburg, Saar, Germany.
Department of Otorhinolaryngology, Saarland University Medical Centre, Homburg, Saar, Germany.
J Med Case Rep. 2025 Mar 28;19(1):145. doi: 10.1186/s13256-025-05183-5.
This report outlines a case of pseudocholinesterase deficiency in a pediatric patient, whose autosomal recessive condition is caused by two different pathologic variants of the butyrylcholinesterase gene, resulting in a rare case of functional homozygosity.
A healthy 4-year-old girl of Northern European descent underwent general anesthesia for tonsillotomy, adenoidectomy, and bilateral tympanocentesis. Previously unknown pseudocholinesterase deficiency presented as delayed emergence with sustained apnea and paralysis following administration of mivacurium, necessitating transfer to the pediatric intensive care unit for prolonged post-operative ventilatory support and monitoring. Extubation was safely performed 8 hours later. No long-term sequelae were noted. Genetic testing identified compound heterozygosity in the butyrylcholinesterase gene. Thus, a diagnosis of autosomal recessive hereditary pseudocholinesterase deficiency was made.
Pseudocholinesterase deficiency will almost always present unexpectedly and must be included in the differential diagnosis of delayed emergence. Once suspected, a clinical diagnosis can be supported using a peripheral nerve stimulator, and confirmed using laboratory tests. Genetic testing can help determine the etiology of disease.
本报告概述了一例儿科患者的假性胆碱酯酶缺乏症，其常染色体隐性疾病由丁酰胆碱酯酶基因的两种不同病理变体引起，导致罕见的功能性纯合子病例。
一名健康的4岁北欧裔女孩接受了扁桃体切除术、腺样体切除术和双侧鼓膜穿刺术的全身麻醉。先前未知的假性胆碱酯酶缺乏症表现为在使用米库氯铵后出现延迟苏醒，并伴有持续呼吸暂停和麻痹，因此需要转至儿科重症监护病房进行长时间的术后通气支持和监测。8小时后安全拔管。未发现长期后遗症。基因检测确定丁酰胆碱酯酶基因存在复合杂合性。因此，诊断为常染色体隐性遗传性假性胆碱酯酶缺乏症。
假性胆碱酯酶缺乏症几乎总是意外出现，必须纳入延迟苏醒的鉴别诊断中。一旦怀疑，可使用外周神经刺激器支持临床诊断，并通过实验室检查确诊。基因检测有助于确定疾病病因。
