Plasma cholinesterase deficiency in a neonate

Area of Science:

• Anesthesiology and Pharmacology
• Biochemistry and Genetics
• Neonatal Medicine

Background:

• Succinylcholine is a common muscle relaxant used in anesthesia.
• Pseudocholinesterase (PChE) enzyme metabolizes succinylcholine.
• Genetic variations in PChE can lead to prolonged paralysis after succinylcholine administration.

Observation:

• A two-day-old infant presented with a six-hour apneic event post-intravenous succinylcholine administration.
• The infant exhibited a significantly low plasma cholinesterase level and a low dibucaine number.
• Family members, including parents and siblings, showed normal cholinesterase levels and dibucaine numbers.

Findings:

• The infant was diagnosed with a congenital absence of plasma cholinesterase (PChE) enzyme.
• This genetic deficiency resulted in the inability to metabolize succinylcholine effectively.
• The prolonged apnea was directly attributed to the PChE enzyme deficiency.

Implications:

• This case highlights the youngest reported instance of prolonged apnea following succinylcholine use.
• It underscores the importance of considering PChE deficiency in neonates presenting with unexpected prolonged neuromuscular blockade.
• Early identification and genetic counseling are crucial for families with PChE deficiencies to prevent future anesthetic complications.