title: [Prolonged neuromuscular block in a patient with butyrylcholinesterase deficiency].
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.
authors.affiliation: Fédération de biologie clinique, hôpital d'instruction des armées Bégin, 69, avenue de Paris, 94163 Saint-Mandé cedex, France.
authors.forename: I
authors.initials: I
authors.lastname: Mabboux
authors.affiliation: Fédération de biologie clinique, hôpital d'instruction des armées Bégin, 69, avenue de Paris, 94163 Saint-Mandé cedex, France.
authors.forename: B
authors.initials: B
authors.lastname: Hary
authors.affiliation: Fédération de biologie clinique, hôpital d'instruction des armées Bégin, 69, avenue de Paris, 94163 Saint-Mandé cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Courcelle
authors.affiliation: Fédération de biologie clinique, hôpital d'instruction des armées Bégin, 69, avenue de Paris, 94163 Saint-Mandé cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Ceppa
authors.affiliation: Fédération de biologie clinique, hôpital d'instruction des armées Bégin, 69, avenue de Paris, 94163 Saint-Mandé cedex, France. Electronic address: herve.delacour@santarm.fr.
authors.forename: H
authors.initials: H
authors.lastname: Delacour
mesh_terms: D000293:Adolescent; D001049:Apnea / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002091:Butyrylcholinesterase / Q000172:deficiency* / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D009467:Neuromuscular Depolarizing Agents / Q000009:adverse effects; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D013390:Succinylcholine / Q000009:adverse effects
chemical_list: D009467:Neuromuscular Depolarizing Agents; D002091:Butyrylcholinesterase; D013390:Succinylcholine