Objective: To present a case of anti-IgLON5 disease with life-threatening respiratory complications.

Background: Anti-IgLON5 disease is a little known CNS disorder characterized by non-REM and REM parasomnias and respiratory dysfunction. Other features include bulbar syndrome, gait abnormalities, chorea and cognitive decline. Furthermore, patients can develope severe respiratory disturbances such as central hypoventilation. The disorder is associated with IgLON5 antibodies, HLA DRB1 and HLA DQB1 and tauopathy predominantly involving the hypothalamus and tegmentum of the brainstem. These findings place this disorder at the convergence of neurodegenerative and autoimmune mechanisms. Most of patients do not improve with immunotherapy [1,2].

Method: We report a case of anti-IgLON5 disease with chorea and respiratory impairment.

Results: In 2015 a 71-years-old woman was admitted to our Clinic for a one-year-history of progressive insomnia, sleep parasomnias, chorea, behavioral disorders and respiratory disturbances. Her past medical history revealed COPD and diabetes mellitus. She never received antipshycotic therapy. Neurological examination showed choreic movements affecting the limbs, trunk and face. Neuropsychological assessment revealed impaired executive and visuospactial function [3]; brain MRI, molecular analysis of IT-15 gene, acanthocytosis, autoimmune, metabolic and paraneoplastic screening were unremarkable. Tetrabenazine was administered, but the drug was not tolerated. In 2016, the patient presented psychosis and aggressive behavior; haloperidol was administered; in this context, the patient developed acute respiratory failure and needed intensive care. Later, she presented further episodes of respiratory distress and required intensive care each time. Finally, in 2017, positive anti-IgLON5 Ab and HLA DRB1 and HLA DQB1 genes were found. In the 2-years of follow-up, choreic, psychotic and respiratory disorders improved spontaneously, while sleep disorders still persist.

Conclusion: Anti-IgLON5 is newly described CNS disorder; further studies are needed to clarify its exact pathogenesis and find a specific treatment.

References: [1] Gaig et al., Clinical Manifestation of the anti-IgLON disease, Neurology, 2017; [2] Heidbreder et al., Anti-IgLON5 disease, Curr Treat Opinions Neurol, 2018; [3] Simabukuro et al., Sleep disorders, chorea and dementia associated with IgLON5 antibodies, Neurol Neuroimmunol Neuroinflamm, 2015.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/a-life-threatening-case-of-anti-iglon5-disease/