Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812152
Neuroinflammatory Disorders

Case Report (+Video): Glycine Receptor Antibody-Associated Autoimmune Encephalitis in a 16-Year-Old Male

Autoren

  • S. Sommer

    1   Kinderklinik Datteln, Zentrum für Neuropädiatrie, Datteln, Germany
    2   Witten/Herdecke University, Chair of Biochemistry and Molecular Medicine, Center for Biomedical Education and Research (ZBAF), Witten, Germany

  • G. Koukou

    1   Kinderklinik Datteln, Zentrum für Neuropädiatrie, Datteln, Germany

  • A. Della Marina

    3   Department of Pediatric Neurology, University Duisburg-Essen, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Essen, Germany

  • N. Rademacher

    3   Department of Pediatric Neurology, University Duisburg-Essen, Centre for Neuromuscular Disorders, Centre for Translational Neuro- and Behavioral Sciences, Essen, Germany

  • F. Ebinger

    4   St. Vincenz-Krankenhaus, Neuropädiatrie, Klinik für Kinder- und Jugendmedizin, Paderborn, Germany

  • F. Leypoldt

    5   UKSH, Neuroimmunology, Institute of Clinical Chemistry, UKSH, Kiel/Lübeck, Germany
    6   Department of Neurology, Christian-Albrechts University, Kiel, Germany

  • K. Rostasy

    1   Kinderklinik Datteln, Zentrum für Neuropädiatrie, Datteln, Germany
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Background/Purpose: Glycine-receptor antibody (GlyR-Ab) encephalitis is a rare, reversible autoimmune disease that typically manifests in adults as PERM or stiff-person syndrome. Paediatric cases are few, and early symptoms often mimic peripheral neuropathy or psychiatric illness, delaying diagnosis.

Methods/Case Presentation: We report a 16-year-old boy who experienced a 12-month diagnostic odyssey that began with episodic hypertension and panic attacks and progressed to bilateral ptosis, cerebellar ataxia, pyramidal hyperreflexia, bulbar dysarthria, startle-like myoclonus, and urinary dysfunction. Seven months after onset, an antibody panel revealed low-titre acetylcholine-receptor antibodies, prompting high-dose corticosteroids, IVIG, azathioprine, and pyridostigmine with partial facial improvement. An additional laboratory screen subsequently identified pathogenic high levels of GlyR-IgG in serum and CSF.

Results: The patient was transferred for five plasma-exchange sessions followed by rituximab and a tapering oral prednisolone course. Maintenance therapy comprised six monthly IVIG cycles and a second rituximab dose 3 months later. Neurological signs improved rapidly after plasma exchange and rituximab and resolved completely within 2 months. At 1-year follow-up (month 12 after onset), he was able to return to school and sports without deficits.

Conclusion: This case highlights the protean presentation of paediatric GlyR-Ab encephalitis and emphasizes three aspects: (1) early mixed autonomic, brainstem and pyramidal signs should prompt consideration of central autoimmunity even with normal imaging; (2) low-titre acetylcholine-receptor seropositivity may coexist and obscure the underlying diagnosis; and (3) plasma-exchange plus B-cell depletion can achieve sustained remission. Clinicians should include GlyR-Ab testing in serum and CSF with a live-cell-based assay in seronegative or atypical autoimmune-encephalitis panels to facilitate timely, life-altering treatment.



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Artikel online veröffentlicht:
26. September 2025

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