Annals of Clinical Neurophysiology

Late-Onset Myopathic form of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Linked to Compound Heterozygous Variants in ACADVL: Wonjae Sung, Young-Eun Kim, Seung Hyun Kim; Korean J Neuromuscul Disord 2022;14(2):42-44. Published online December 31, 2022; DOI: https://doi.org/10.46518/kjnmd.2022.14.2.42

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Spectrum of nitrous oxide intoxication related neurological disorders in Korea: a case series and literature review: Jungsoo Lee, Yangmi Park, Hyunkee Kim, Nakhoon Kim, Wonjae Sung, Sanggon Lee, Jinseok Park; Ann Clin Neurophysiol 2021;23(2):108-116. Published online October 29, 2021; DOI: https://doi.org/10.14253/acn.2021.23.2.108

Background
Nitrous oxide (N₂O) is used in surgery and dentistry for its anesthetic and analgesic effects. However, neurological and psychiatric manifestations of N₂O abuse have been increasingly reported among Korean adults. The aim of this study was to demonstrate laboratory findings of N₂O abuse in Korean patients.
Methods
Patients diagnosed with N₂O-induced neuropathy or myelopathy from August 2018 to December 2019 were enrolled. Their clinical presentations and laboratory and imaging findings were analyzed.
Results
Sensory changes and limb weakness were present in nine of the enrolled patients. The laboratory findings revealed that seven patients had high homocysteine levels and five had high methylmalonic acid levels in their blood. Nerve conductions studies indicated that axonal neuropathy was present in four cases and longer F-wave and Hoffman’s-reflex latencies were present in two cases. Signal changes in cervical spine imaging occurred in five patients, while two had normal results.
Conclusions
Chronic N₂O abuse can cause neurological damage or psychiatric problems. Because N₂O is illegal for recreational use in Korea, patients tend to hide their history of use. Even though the spinal imaging results were normal, clinicians should consider the possibility of N₂O use, and further electrophysiological tests should be applied for precise evaluations.

Citations

Citations to this article as recorded by

The prevalence, risks, and detection of driving under the influence of nitrous oxide
Frederick R. J. Vinckenbosch, Dinesh Durán Jiménez, Hendrik Helmerhorst, Albert Dahan, Leon Aarts, Floris Bikker, Eef Theunissen, Johannes G. Ramaekers
WIREs Forensic Science.2024;[Epub] CrossRef
Nitrous‐oxide‐induced polyneuropathy and subacute combined degeneration of the spine: clinical and diagnostic characteristics in 70 patients, with focus on electrodiagnostic studies
L. T. Hassing, F. Y. Jiang, R. Zutt, S. Arends
European Journal of Neurology.2024;[Epub] CrossRef
Severe Isolated Peripheral Polyneuropathy without Myelopathy after Nitrous Oxide Abuse: A Case Report
Seung-Min Baek, Seungbok Lee, Yu-Mi Kim, Eun-Sil Kim
Journal of Electrodiagnosis and Neuromuscular Dise.2022; 24(2): 50. CrossRef

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Single (GCN)11/Ala11 Allele Induces Incomplete Oculopharyngeal Muscular Dystrophy Presenting Atypical Disease Course: Wonjae Sung, Young-Eun Kim, Seung Hyun Kim; Korean J Neuromuscul Disord 2021;13(1):11-14. Published online June 30, 2021; DOI: https://doi.org/10.46518/kjnmd.2021.13.1.11

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by (GCN) expansions in the polyalanine binding protein nuclear 1 gene (PABPN1) located on chromosome 14q11. This study reports a case of an incomplete clinical characteristics of OPMD with heterozygous (GCN)11 expansion. A fifty-nine-year-old Korean woman was suffering from non-progressive dysarthria, dysphagia for five years. Neurologic findings were unremarkable except for tongue atrophy and mild ptosis. A genetic screening confirmed heterozygous (GCN)11 expansion in the PABPN1 gene.