1. [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency].
- Author
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Mabboux I, Hary B, Courcelle S, Ceppa F, and Delacour H
- Subjects
- Adolescent, Apnea complications, Apnea diagnosis, Butyrylcholinesterase metabolism, Humans, Male, Metabolism, Inborn Errors complications, Metabolism, Inborn Errors diagnosis, Neuromuscular Depolarizing Agents adverse effects, Neuromuscular Diseases diagnosis, Neuromuscular Diseases etiology, Pedigree, Succinylcholine adverse effects, Apnea genetics, Butyrylcholinesterase deficiency, Butyrylcholinesterase genetics, Metabolism, Inborn Errors genetics, Neuromuscular Diseases genetics, Point Mutation
- Abstract
Succinylcholine is a neuromuscular block whose duration of action depends on rapid hydrolysis by butyrylcholinesterase (BChE). In patients with common BChE activities, succinylcholine duration of action is short (10min). BChE deficiency induces a slower hydrolysis of the drug and consequently prolonged neuromuscular block, leading to apnea. We report a case of prolonged neuromuscular block after administration of succinylcholine in a 14-year-old boy. Biological investigations revealed a marked BChE deficiency (1099U/L) related to the presence of three point mutations in the BCHE gene in a compound heterozygous state: p.Asp70Gly (rs1799807), p.Ala539Tyr (rs1803274), and p.Phe118Valfs*12 (rs398124632). The diagnosis of genetic BChE deficiency (OMIM 177400) was retained. This case is intended to present the pathophysiology of genetic BChE deficiency, its management, and the diagnostic strategy to be implemented., (Copyright © 2016 Elsevier Masson SAS. All rights reserved.)
- Published
- 2016
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