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

Deirdre O'Sullivan; Michael Moore; Susan Byrne; Andreas O. Reiff; Susanna Felsenstein

doi:10.1055/s-0040-1721434

Journal of Pediatric Neurology, Inhaltsverzeichnis

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

¹Department of Paediatrics, Paediatric BST Trainee RCPI, Cork University Hospital, Cork, Ireland

,

Michael Moore

²Department of Paediatric Radiology, Cork University Hospital, Cork, Ireland

,

Susan Byrne

³Department of Paediatric Neurology, Guy's and St Thomas' NHS Foundation Trust, United Kingdom

,

Andreas O. Reiff

⁴Department of Inflammation/Immunology, PAREXEL International, Global Medical Services, United States

,

Susanna Felsenstein

⁵Department of Infectious Diseases and Immunology, Alder Hey Children's Hospital NHS Trust, Liverpool, United Kingdom

› Institutsangaben

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

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Referenzen

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