Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

Abstract

BackgroundGlycosylation is one of the major posttranslational modifications of proteins and it is essential for proteins to obtain normal biological functions. Congenital disorders of glycosylation (CDGs) are very rare genetic disorders that lack enzymes needed for glycosylation. Phosphomannomutase-2 (PMM2)-CDG is the most common type of CDG. CDGs can cause a wide variety of clinical symptoms in almost every organ system. Muscular hypotonia is often present in patients with CDGs and is one of the most notable problems for anesthetic management because the susceptibility to nondepolarizing neuromuscular blocking agents (NMBAs) in patients with CDGs is unknown.Case presentationThe patient was a 17-month-old boy who weighed 6.5 kg and was 71 cm tall. He presented for strabismus surgery. He had muscular hypotonia, mental retardation, hepatic dysfunction, mild cerebellar hypoplasia, and some dysmorphic features including inverted nipples and abnormal subcutaneous fat distribution of the hips. Gene analysis revealed a compound heterozygous mutation in the gene encoding PMM2 and the patient was diagnosed as having PMM2-CDG. General anesthesia was performed with sevoflurane, nitrous oxide, and rocuronium. Neuromuscular monitoring was performed during anesthesia using train-of-four (TOF)-Watch® (MSD, Japan). As postoperative analgesia, the surgeon performed sub-Tenon’s anesthesia. We did not use any intravenous analgesic. After completion of the operation, residual rocuronium was competed by administration of sugammadex. The patient gained consciousness and spontaneous breathing was established shortly thereafter, and the trachea was smoothly extubated. He was transported to an inpatient ward and was discharged to his home the next day without any complication.ConclusionsWe performed safe anesthetic management in a 17-month-old boy with PMM2-CDG using rocuronium under neuromuscular monitoring.A patient with PMM2-CDG may show nearly normal susceptibility to nondepolarizing NMBAs.

Anesthetic Management of a Patient With S-Adenosylhomocysteine Hydrolase Deficiency: A Case Report

“…7 One case report demonstrated the safe use of sevoflurane, N2O, rocuronium, and sugammadex. 14 The preoperative dextrose-containing intravenous fluids were provided to prevent a catabolic state that might lead to further muscle damage. While patients with methylation disorders may tolerate periods of catabolism well, 15 the decision was made to manage the patient cautiously due to a lack of specific evidence on AHCY deficiency management.…”

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

“…However, the use of NMBAs should be determined individually ( Gueret et al, 2004 ). NMBAs can have an unexpectedly prolonged effect in patients with hypotonia, and the susceptibility of patients with CDG to non-depolarizing NMBAs remains unclear ( Sakai et al, 2017 ). Although it is not well understood, to the best of our knowledge, trans-synaptic signaling is reduced in CDGs ( Frappaolo et al, 2018 ), the expression of postsynaptic nicotinic acetylcholine receptors with normal function is also reduced ( Freeze et al, 2014 ).…”

“…To date, the literature on this subject lacks reports on anesthesia management in children with CDGs. To date, only three reports have been published, each regarding CDG types, namely, PMM2-CDG, ALG6-CDG, and STT3B-CDG ( Sakai et al, 2017 ) ( Meaudre et al, 2005 ) ( Lehavi et al, 2011 ). Sakai et al (2017) suggested the use of neuromuscular monitoring when using rocuronium on CDG patients with hepatic dysfunction and hypotonia.…”

“…To date, only three reports have been published, each regarding CDG types, namely, PMM2-CDG, ALG6-CDG, and STT3B-CDG ( Sakai et al, 2017 ) ( Meaudre et al, 2005 ) ( Lehavi et al, 2011 ). Sakai et al (2017) suggested the use of neuromuscular monitoring when using rocuronium on CDG patients with hepatic dysfunction and hypotonia. Meaudre et al (2005) highlighted the complexity of coagulopathy in CDG patients and the perioperative assessment of clotting factors, as part of which practitioners use fresh frozen plasma or a prothrombin complex concentrate to lower hemorrhagic risk during surgery ( Altassan et al, 2019 ).…”

Neuromuscular Blocking Agents and Reversal Agents Among Hospitalized Children: A Cerner Database Study

“…The FDA required postmarking randomized controlled trials among children are currently ongoing and will provide further evidence on the efficacy, safety, and pharmacokinetics of sugammadex in children. In real world, there have been various case reports documenting the use of sugammadex in difficult anesthetic conditions in children, including cardiac transplantation, 11 Duchenne muscular dystrophy, 12,13 Sjögren-Larsson syndrome, 14 phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG), 15 after bronchial foreign body removal, 16 type I mucopolysaccharidosis, 17 neonate, 18 renal transplantation, 19 "cannot ventilate, cannot intubate" scenario, 20 congenital myotonic dystrophy type 1, 21 and myasthenia gravis. 22 Despite challenges, most of the cases were managed successfully.…”