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Neuromyelitis optica spectrum disorder with increased aquaporin-4 microparticles prior to autoantibodies in cerebrospinal fluid: a case report
Örebro University, School of Medical Sciences. Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Faculty of Medicine and Health, University Health Care Research Centre, Örebro University, Örebro, Sweden.ORCID iD: 0000-0002-3587-6075
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Unit of Rheumatology, Department of Medicine, Karolinska Institutet, Karolinska University Hospital, Solna, Stockholm, Sweden.
Karolinska Institutet, Department of Clinical Sciences, Danderyd Hospital, Division of Cardiovascular Medicine, Stockholm, Sweden.
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2019 (English)In: Journal of Medical Case Reports, ISSN 1752-1947, E-ISSN 1752-1947, Vol. 13, no 1, article id 27Article in journal (Refereed) Published
Abstract [en]

BACKGROUND: Neuromyelitis optica spectrum disorders are severe autoimmune inflammatory diseases of the central nervous system associated with the presence of immunoglobulin G antibodies against the water channel protein aquaporin-4. During exacerbation, specific aquaporin-4 immunoglobulin G may be produced intrathecally. We measured extracellular aquaporin-4 microparticles in the cerebrospinal fluid of a patient who later developed the typical symptoms and signs of a neuromyelitis optica spectrum disorder.

CASE PRESENTATION: A 17-year-old South American girl developed acute severe motor and vocal tics and difficulties in walking, peripheral numbness, muscle pain, and bilateral headache. At age 22, she had a multitude of motor and psychiatric symptoms. Over the years, she fulfilled the diagnostic criteria for anorexia nervosa, depression, sleep disorder, obsessive-compulsive disorder, generalized anxiety disorder, panic disorder, agoraphobia, social anxiety disorder, development coordination disorder, attention-deficit/hyperactivity disorder, hypomania, pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, conversion disorder, psychosis, and schizotypal personality syndrome. At age 24, she was found to have elevated titers of aquaporin-4 antibodies in serum, suggestive of probable neuromyelitis optica. She subsequently developed visual impairment, and swollen optic nerves were verified by magnetic resonance imaging. She was thus treated with a chimeric monoclonal antibody targeted against the pan-B-cell marker CD20 (rituximab), and almost all symptoms, including the psychiatric symptoms, rapidly decreased. We found a significant increase of extracellular microparticles of aquaporin-4 in cerebrospinal fluid sampled from our patient when she was 22 years old, 2 years before the full clinical development of neuromyelitis optica.

CONCLUSIONS: Microparticles of aquaporin-4 represent subcellular arrangements that may influence the pathogenesis of neuromyelitis optica spectrum disorders and may serve as biomarkers for the underlying cellular disturbances. The increase of aquaporin-4 microparticles in cerebrospinal fluid may be used for early diagnostic purposes; for prevention; and for evaluation of effective treatment, long-term follow-up studies, and elucidating the pathophysiology in neuromyelitis optica spectrum disorders. Further studies of aquaporin-4 microparticles in cerebrospinal fluid of patients with neuromyelitis optica and similar neuropsychiatric disorders are thus called for.

Place, publisher, year, edition, pages
BioMed Central, 2019. Vol. 13, no 1, article id 27
Keywords [en]
Antibodies, Aquaporin-4, Case report, Conversion disorder, La belle indifférence, Microparticles, Neuromyelitis optica spectrum disorder, Obsessive-compulsive disorder, Pediatric autoimmune neuropsychiatric disorders
National Category
Rheumatology and Autoimmunity
Identifiers
URN: urn:nbn:se:oru:diva-72040DOI: 10.1186/s13256-018-1929-zPubMedID: 30696485Scopus ID: 2-s2.0-85060700660OAI: oai:DiVA.org:oru-72040DiVA, id: diva2:1288022
Available from: 2019-02-12 Created: 2019-02-12 Last updated: 2019-02-12Bibliographically approved

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Bejerot, Susanne

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