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Neuromyelitis optic...
Neuromyelitis optica spectrum disorder with increased aquaporin-4 microparticles prior to autoantibodies in cerebrospinal fluid : a case report
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- Bejerot, Susanne, 1955- (författare)
- Örebro universitet,Institutionen för medicinska vetenskaper,Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden; Faculty of Medicine and Health, University Health Care Research Centre, Örebro University, Örebro, Sweden
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- Hesselmark, Eva (författare)
- Karolinska Institutet
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- Mobarrez, Fariborz (författare)
- Karolinska Institutet
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- Wallén, Håkan (författare)
- Karolinska Institutet
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- Hietala, Max Albert (författare)
- Karolinska Institutet
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- Nybom, Rolf (författare)
- Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
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- Wetterberg, Lennart (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2019-01-30
- 2019
- Engelska.
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Ingår i: Journal of Medical Case Reports. - : BioMed Central (BMC). - 1752-1947. ; 13:1
- Relaterad länk:
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https://doi.org/10.1...
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https://oru.diva-por... (primary) (Raw object)
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https://doi.org/10.1...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
Stäng
- 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.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reumatologi och inflammation (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Rheumatology and Autoimmunity (hsv//eng)
Nyckelord
- Antibodies
- Aquaporin-4
- Case report
- Conversion disorder
- La belle indifférence
- Microparticles
- Neuromyelitis optica spectrum disorder
- Obsessive-compulsive disorder
- Pediatric autoimmune neuropsychiatric disorders
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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