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BMC Neurology

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Open Access 01-12-2022 | Magnetic Resonance Imaging | Case report

Inspiratory laryngeal stridor as the main feature of progressive encephalomyelitis with rigidity and myoclonus: a case report and literature review

Authors: Qingyang Yao, Maolin Fu, Lijie Ren, Caihong Lin, Liming Cao

Published in: BMC Neurology | Issue 1/2022

Abstract

Background

Progressive encephalomyelitis with rigidity and myoclonus (PERM) is an acute, potentially life-threatening, yet curable neuro-immunological disease characterized by spasms, muscular rigidity, and brainstem and autonomic dysfunction. The clinical features of glycine receptor (GlyR) antibody-positive PERM may be overlooked, particularly with some unusual symptoms.

Case presentation

A 52-year-old man was admitted to the hospital for evaluation of tension headache for 20 days and mild dysarthria. These symptoms were followed by panic, profuse sweating, severe dysarthria, dizziness, unsteady gait, and paroxysmal muscle spasms. Brain magnetic resonance imaging and cerebrospinal fluid analysis were normal. The patient’s condition steadily deteriorated. He repeatedly presented with rigidity, panic attacks, severe anxiety, paroxysmal inspiratory laryngeal stridor, cyanosis of the lips, and intractable epilepsy. Electromyography showed multiple myoclonic seizures, a single generalized tonic-clonic seizure, and a single generalized tonic seizure. Screening for autoimmune encephalitis antibodies revealed anti-GlyR antibodies in his cerebrospinal fluid. Immunomodulatory pulse therapy with steroids and immunoglobulin resulted in expeditious improvement of the symptoms within 2 weeks, and a follow-up at 5 weeks showed consistent clinical improvement.

Conclusion

Our case highlights that inspiratory laryngeal stridor is an important symptom of PERM. Our observation widens the spectrum of the clinical presentation of anti-GlyR antibody-positive PERM, where early identification is a key to improving prognosis.

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Crisp SJ, Balint B, Vincent A. Redefining progressive encephalomyelitis with rigidity and myoclonus after the discovery of antibodies to glycine receptors. Curr Opin Neurol. 2017;30:310–6. https://doi.org/10.1097/WCO.0000000000000450.CrossRefPubMed

Stern WM, Howard R, Chalmers RM, Woodhall MR, Waters P, Vincent A, et al. Glycine receptor antibody mediated progressive encephalomyelitis with rigidity and myoclonus (PERM): a rare but treatable neurological syndrome. Pract Neurol. 2014;14:123–7. https://doi.org/10.1136/practneurol-2013-000511.CrossRefPubMed

Su Y, Cui L, Zhu M, Liang Y, Zhang Y. Progressive encephalomyelitis with rigidity and myoclonus with thymoma: a case report and literature review. Front Neurol. 2020;11:1017. https://doi.org/10.3389/fneur.2020.01017.CrossRefPubMedPubMedCentral

Martinez-Martinez P, Molenaar PC, Losen M, Baets MH. Glycine receptor antibodies in PERM: a new channelopathy. Brain. 2014;137:2115–6. https://doi.org/10.1093/brain/awu153.CrossRefPubMedPubMedCentral

Iizuka T, Tominaga N, Kaneko J. Clinical spectrum of anti-glycine receptor antibody-associated disease. Clin Neurol. 2013;53:1063–6. https://doi.org/10.5692/clinicalneurol.53.1063.CrossRef

Hutchinson M, Waters P, McHugh J, Gorman G, Riordan SO, Connolly S, et al. Progressive encephalomyelitis, rigidity, and myoclonus: a novel glycine receptor antibody. Neurology. 2008;71:1291–2. https://doi.org/10.1212/01.wnl.0000327606.50322.f0.CrossRefPubMed

Bourke D, Roxburgh R, Vincent A, Cleland J, Jeffery O, Dugan N, et al. Hypoventilation in glycine-receptor antibody related progressive encephalomyelitis, rigidity and myoclonus. J Clin Neurosci. 2014;21:876–8. https://doi.org/10.1016/j.jocn.2013.07.014.CrossRefPubMed

Mas N, Saiz A, Leite MI, Waters P, Baron M, Castaño D, et al. Antiglycinereceptor encephalomyelitis with rigidity. J Neurol Neurosurg Psychiatry. 2011;82:1399–401. https://doi.org/10.1136/jnnp.2010.229104.CrossRefPubMed

Schmidt C, Freilinger T, Lieb M, Rémi J, Klein M, Straube A, et al. Progressive encephalomyelitis with rigidity and myoclonus preceding otherwise asymptomatic Hodgkin’s lymphoma. J Neurol Sci. 2010;291:118–20. https://doi.org/10.1016/j.jns.2009.12.025.CrossRefPubMed

10.

Wuerfel E, Bien CG, Vincent A, Woodhall M, Brockmann K. Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder. J Neurol Sci. 2014;343:180–2. https://doi.org/10.1016/j.jns.2014.05.014.CrossRefPubMed

11.

Carvajal-Gonzalez A, Leite MI, Waters P, Woodhall M, Coutinho E, Balint B, et al. Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes. Brain. 2014;137:2178–92. https://doi.org/10.1093/brain/awu142.CrossRefPubMedPubMedCentral

12.

Kenda J, Švigelj V, Rodi Z, Koritnik B, Graus F, Kojovic M. Glycine receptor antibodies and progressive encephalomyelitis with rigidity and myoclonus with predominant motor neuron degeneration–expanding the clinical spectrum. J Neurol Sci. 2015;353:177–8. https://doi.org/10.1016/j.jns.2015.03.049.CrossRefPubMed

13.

Borellini L, Lanfranconi S, Bonato S, Trezzi I, Franco G, Torretta L, et al. Progressive encephalomyelitis with rigidity and myoclonus associated with anti-GlyR antibodies and hodgkin’s lymphoma: a case report. Front Neurol. 2017;8:401. https://doi.org/10.3389/fneur.2017.00401.CrossRefPubMedPubMedCentral

14.

Peeters E, Vanacker P, Woodhall M, Vincent A, Schrooten M, Vandenberghe W. Supranuclear gaze palsy in glycine receptor antibody-positive progressive encephalomyelitis with rigidity and myoclonus. Mov Disord. 2012;27:1830–2. https://doi.org/10.1002/mds.25239.CrossRefPubMed

15.

Martinez-Hernandez E, Arino H, McKeon A, Iizuka T, Titulaer MJ, Simabukuro MM, et al. Clinical and immunologic investigations in patients with stiff-person spectrum disorder. JAMA Neurol. 2016;73:714–20. https://doi.org/10.1001/jamaneurol.2016.0133.CrossRefPubMedPubMedCentral

Title: Inspiratory laryngeal stridor as the main feature of progressive encephalomyelitis with rigidity and myoclonus: a case report and literature review
Authors: Qingyang Yao
Maolin Fu
Lijie Ren
Caihong Lin
Liming Cao
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Magnetic Resonance Imaging
Magnetic Resonance Imaging
Epilepsy
Dysarthria
Published in: BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI: https://doi.org/10.1186/s12883-022-02555-y

2024 ASCO Annual Meeting

Springer Medicine

Inspiratory laryngeal stridor as the main feature of progressive encephalomyelitis with rigidity and myoclonus: a case report and literature review

Abstract

Background

Case presentation

Conclusion

2024 ASCO Annual Meeting

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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