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DOI: 10.1055/s-0040-1721434
Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child
Funding None.![](https://www.thieme-connect.de/media/10.1055-s-00029030/202105/lookinside/thumbnails/10-1055-s-0040-1721434_2000091-1.jpg)
Abstract
Acute disseminated encephalomyelitis in association with extensive longitudinal transverse myelitis is reported in a young child with positive anti-myelin oligodendrocyte glycoprotein (MOG) antibody with heterozygous NLRP3 missense mutations; p.(Arg488Lys) and p.(Ser159Ile). This case may well present an exceptional coincidence, but may describe a yet unrecognized feature of the spectrum of childhood onset cryopyrinopathies that contribute to the understanding of the genetic basis for anti-MOG antibody positive encephalomyelitis. Based on this observation, a larger scale study investigating the role of NLRP3 and other inflammasomes in this entity would provide important pathophysiological insights and potentially novel avenues for treatment.
Note
This study received written patient consent from both parents.
Publikationsverlauf
Eingereicht: 23. Juni 2020
Angenommen: 28. Oktober 2020
Artikel online veröffentlicht:
26. Dezember 2020
© 2020. Thieme. All rights reserved.
Georg Thieme Verlag KG
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