AUTHOR=Chang En-Che , Chang Yu-Hsuan , Tsai Yu-Shiun , Hung Yi-Li , Li Min-Jia , Wong Chih-Shung 

TITLE=Case report: The art of anesthesiology—Approaching a minor procedure in a child with MPI-CDG

JOURNAL=Frontiers in Pharmacology

VOLUME=Volume 13 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/pharmacology/articles/10.3389/fphar.2022.1038090

DOI=10.3389/fphar.2022.1038090

ISSN=1663-9812

ABSTRACT=Background: Protein glycosylation plays an important role in post-translational modification, which defines a broad spectrum of protein functions. Accordingly, infants with congenital disorder of glycosylation (CDG) can have N-glycosylation, O-glycosylation, or combined N- and O-glycosylation defects, resulting in similar but different multisystem involvement. CDGs can present notable gastrointestinal and neurologic symptoms. Both protein-losing enteropathy and hypotonia affect the decision of using anesthetics. We report a case of MPI-CDG with protein-losing enteropathy and muscular hypotonia who underwent different anesthesia approach strategies of vascular access. Here, we highlight why intubation with sevoflurane anesthesia and sparing muscle relaxants is the optimal strategy for such condition.
Case presentation: A 25-month-old girl, weighed 6.6 kg and 64 cm tall suffered chronic diarrhea, hypoalbuminemia and hypotonia since birth. Protein-losing enteropathy due to MPI-CDG was documented by whole exome sequencing. She underwent three sedated surgical procedures in our hospital. The sedation was twice done by pediatricians with oral chloral hydrate, intravenous midazolam, and ketamine, to which the patient showed moderate to late recovery from sedation and irritable in the following night. The most recent one was done by anesthesiologist where endotracheal intubation was performed with sevoflurane as the main anesthetic. The patient regained consciousness immediately after the operation. She had no complications however after all three sedation/anesthesia interventions and was discharged 7 days later uneventful after the third general anesthesia procedure.
Conclusion: We performed safe anesthetic management in a 25-month-old girl with MPI-CDG using sevoflurane under control ventilation. She immediately emerged after the procedure. Due to disease entity, we suggest bypassing the intravenous route to avoid over volume for drugs administration, and muscle relaxant may be not necessary for endotracheal intubation and patient immobilization when performing procedures under general anesthesia in CDG patients.