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

Abstract

Background: 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.

Case presentation: 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.

Conclusion: 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.

Keywords: Case report; Delayed emergence; Neuromuscular blockade; Pediatric anesthesia; Pseudocholinesterase deficiency.

Fig. 1

Narcotrend indices throughout the operation and perioperative period. After induction of anesthesia, the electroencephalogram index drops to D2 (40–60). Administration of anesthetics is stopped 5 minutes before the end of the operation. The index rises to B1–B2 (80–89) and remains at this level for about 20 minutes [1]. At this stage, spectral analysis shows a typical propofol pattern characterized predominantly by beta activity. Interestingly, the electroencephalogram index subsequently drops again (C1–2, 70–79), despite cessation of anesthetic administration [2]. Spectral analysis now reveals significantly reduced beta activity with an increase in theta waves. This pattern likely reflects the residual effect of propofol (beta waves) alongside the child’s sleep electroencephalogram (theta waves). A sudden increase in the electroencephalogram index to A (94) raises suspicion of a relaxant overhang, whereupon sedation is restarted [3]. When propofol is restarted, beta activity in the electroencephalogram increases again, and the index begins to fall