Aquaporin-4 neuromyelitis optica spectrum disorder in a 2-year-old girl: Diagnostic and treatment considerations

Tuba Rashid Khan; Cynthia Wang

doi:10.1016/j.msard.2020.102030

Aquaporin-4 neuromyelitis optica spectrum disorder in a 2-year-old girl: Diagnostic and treatment considerations

Mult Scler Relat Disord. 2020 Jun:41:102030. doi: 10.1016/j.msard.2020.102030. Epub 2020 Feb 27.

Authors

Tuba Rashid Khan¹, Cynthia Wang²

Affiliations

¹ Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA. Electronic address: tuba.rashidkhan@utsouthwestern.edu.
² Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, TX, USA; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.

PMID: 32145694
DOI: 10.1016/j.msard.2020.102030

Abstract

We describe a case of an unusually early and severe manifestation of Aquaporin-4 (AQP-4) positive Neuromyelitis Optica Spectrum Disorder (NMOSD) in a two-year-old girl. We discuss learning points from her clinical presentation and highlight differences between pediatric and adult presentations of the disease. We argue that AQP-4 NMOSD should always be considered in the differential diagnosis for any child presenting with an acute neuroimmunological process given the morbidity associated with the condition and the importance of early diagnosis and treatment.

Keywords: Aquaporin-4; Autoimmune neurology; Neuroimmunology; Neuromyelitis optica.

Publication types

Case Reports

MeSH terms

Aquaporin 4 / immunology*
Child, Preschool
Female
Humans
Magnetic Resonance Imaging
Myelitis, Transverse / diagnosis*
Myelitis, Transverse / immunology
Myelitis, Transverse / pathology
Myelitis, Transverse / physiopathology
Neuromyelitis Optica / diagnosis
Neuromyelitis Optica / immunology
Neuromyelitis Optica / pathology
Neuromyelitis Optica / physiopathology

Substances

AQP4 protein, human
Aquaporin 4