Hereditary pseudocholinesterase deficiency in a 4-year-old girl: a case report

Abstract

Background This report outlines a case of pseudocholinesterase defciency in a pediatric patient, whose autosomal recessive condition is caused by two diferent pathologic variants of the butyrylcholinesterase gene, resulting in a rare case of functional homozygosity. Case presentation A healthy 4-year-old girl of Northern European descent underwent general anesthesia for ton‑ sillotomy, adenoidectomy, and bilateral tympanocentesis. Previously unknown pseudocholinesterase defciency presented as delayed emergence with sustained apnea and paralysis following administration of mivacurium, neces‑ sitating 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 identifed compound heterozygosity in the butyrylcholinesterase gene. Thus, a diagnosis of autoso‑ mal recessive hereditary pseudocholinesterase defciency was made. Conclusion Pseudocholinesterase defciency will almost always present unexpectedly and must be included in the diferential diagnosis of delayed emergence. Once suspected, a clinical diagnosis can be supported using a peripheral nerve stimulator, and confrmed using laboratory tests. Genetic testing can help determine the etiology of disease.