Journal of Pediatric Neurology
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

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.


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.


This study received written patient consent from both parents.

Publication History

Received: 23 June 2020

Accepted: 28 October 2020

Publication Date:
26 December 2020 (online)

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