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Journal of Pediatric Neurology 2021; 19(05): 359-363
DOI: 10.1055/s-0040-1721434
Case Report

Anti-Myelin Oligodendrocyte Glycoprotein Encephalomyelitis and Extensive Longitudinal Transverse Myelitis Associated with Compound Heterozygous NLRP3 Missense Mutations in a Young Child

Deirdre O'Sullivan 
1   Department of Paediatrics, Paediatric BST Trainee RCPI, Cork University Hospital, Cork, Ireland
,
Michael Moore
2   Department of Paediatric Radiology, Cork University Hospital, Cork, Ireland
,
Susan Byrne
3   Department of Paediatric Neurology, Guy's and St Thomas' NHS Foundation Trust, United Kingdom
,
Andreas O. Reiff
4   Department of Inflammation/Immunology, PAREXEL International, Global Medical Services, United States
,
Susanna Felsenstein
5   Department of Infectious Diseases and Immunology, Alder Hey Children's Hospital NHS Trust, Liverpool, United Kingdom
› Author Affiliations Funding None.
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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.

Keywords

anti-MOG - NLRP3 - encephalomyelitis

Note

This study received written patient consent from both parents.




Publication History

Received: 23 June 2020

Accepted: 28 October 2020

Article published online:
26 December 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

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