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09.36 A tumultuous case of episodic apnoea
  1. Bo Sun1,
  2. Victor Mgbachi2,
  3. Mark Woodhall2,
  4. Zanna Voysey3,
  5. Laura Azzopardi3,
  6. Prabha Rajan3,
  7. Stephen Wroe4,
  8. Patrick Waters1,
  9. M Isabel Leite1,2,
  10. Sarosh Irani1,2
  1. 1Oxford Autoimmune Neurology Group, University of Oxford
  2. 2Oxford University Hospitals NHS Foundation Trust
  3. 3Barking Havering and Redbridge University Hospitals NHS Trust
  4. 4Essex Centre for Neurosciences, Queen’s Hospital, Romford


Glycine-receptor(GlyR) antibodies are well defined in progressive encephalomyelitis with rigidity and myoclonus (PERM), and are associated with a limited spectrum of immunotherapy-responsive syndromes. Whilst paradigms of autoantibody pathogenicity have been proposed, the trigger and propagation of GlyR antibodies remains unclear. We herein describe and define clinical and immunobiological observations of a GlyR antibody positive patient with PERM with the rare association of an ovarian teratoma.

A 36-year-old woman presented with subacute axial and limb rigidity, stimulus-sensitive myoclonus, startle, ataxia, anxiety and episodic apnoea. GlyR antibodies were present in serum and CSF. CT revealed a 53 mm left ovarian teratoma. Despite improvement following immunotherapy, she relapsed with respiratory arrest, therefore removal of the left ovarian teratoma was performed.

The fresh teratoma tissue was cultured in B-cell stimulating and plasma cell maintaining conditions, based on similar work with ovarian teratomas from patients with NMDAR-antibody encephalitis (Makuch et al., Annals of Neurology 2018).This teratoma secreted GlyR antibodies into culture supernatants consistent with intra-tumoral synthesis of glycine-receptor antibodies. Whilst marked post-surgical improvement was observed, relapses persisted in correspondence with persistent glycine-receptor antibodies.

Our case highlights key areas for clinical consideration; GlyR antibody-mediated disease can be paraneoplastic in nature; ovarian teratomas can produce pathogenic autoantibodies; late tumour removal or immunotherapy worsens prognosis.

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