CC BY 4.0 · Neuropediatrics
DOI: 10.1055/a-2625-0994
Short Communication

Nausea, Vertical Gaze Palsy, and Excessive Sleep: An Unusual Presentation of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder

Tatjana A. Oberholzer
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
Leonie Plastina
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
David Wille
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
,
Selma Sirin
2   Department of Diagnostic Imaging, University Children's Hospital, Zürich, Switzerland
,
Annette Hackenberg
1   Department of Pediatric Neurology, University Children's Hospital, Zürich, Switzerland
› Author Affiliations

Abstract

Neuromyelitis optica spectrum disorder (NMOSD) is a rare neuroinflammatory disease with an annual incidence of less than 1 case in 1,000,000 in the White population and a median age of onset at 40 years. NMOSD usually presents with optic neuritis and longitudinally extensive transverse myelitis. Various brainstem, cerebellar, diencephalic, and hemispheric symptoms may also occur. Early diagnosis and treatment are crucial for symptom management and prevention of relapses and disability. We report the case of a prepubertal girl, highlighting unique clinical and magnetic resonance imaging features and the risk of early parenchymal damage.



Publication History

Received: 15 December 2024

Accepted: 30 April 2025

Accepted Manuscript online:
02 June 2025

Article published online:
11 June 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

Georg Thieme Verlag KG
Oswald-Hesse-Straße 50, 70469 Stuttgart, Germany

 
  • References

  • 1 Hor JY, Asgari N, Nakashima I. et al. Epidemiology of neuromyelitis optica spectrum disorder and its prevalence and incidence worldwide. Front Neurol 2020; 11: 501
  • 2 Lennon VA, Wingerchuk DM, Kryzer TJ. et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004; 364 (9451) 2106-2112
  • 3 McKeon A, Lennon VA, Lotze T. et al. CNS aquaporin-4 autoimmunity in children. Neurology 2008; 71 (02) 93-100
  • 4 Quek AM, McKeon A, Lennon VA. et al. Effects of age and sex on aquaporin-4 autoimmunity. Arch Neurol 2012; 69 (08) 1039-1043
  • 5 Wingerchuk DM, Lennon VA, Pittock SJ, Lucchinetti CF, Weinshenker BG. Revised diagnostic criteria for neuromyelitis optica. Neurology 2006; 66 (10) 1485-1489
  • 6 Wingerchuk DM, Banwell B, Bennett JL. et al; International Panel for NMO Diagnosis. International consensus diagnostic criteria for neuromyelitis optica spectrum disorders. Neurology 2015; 85 (02) 177-189
  • 7 Dutra BG, da Rocha AJ, Nunes RH, Maia ACM. Neuromyelitis optica spectrum disorders: spectrum of MR imaging findings and their differential diagnosis. Radiographics 2018; 38 (01) 169-193
  • 8 Khanna PC, Iyer RS, Chaturvedi A. et al. Imaging bithalamic pathology in the pediatric brain: demystifying a diagnostic conundrum. AJR Am J Roentgenol 2011; 197 (06) 1449-1459
  • 9 Kümpfel T, Giglhuber K, Aktas O. et al; Neuromyelitis Optica Study Group (NEMOS). Update on the diagnosis and treatment of neuromyelitis optica spectrum disorders (NMOSD) - revised recommendations of the Neuromyelitis Optica Study Group (NEMOS). Part II: attack therapy and long-term management. J Neurol 2024; 271 (01) 141-176
  • 10 Connelly-Smith L, Alquist CR, Aqui NA. et al. Guidelines on the use of therapeutic apheresis in clinical practice - evidence-based approach from the Writing Committee of the American Society for Apheresis: the ninth special issue. J Clin Apher 2023; 38 (02) 77-278
  • 11 Kim SH, Huh SY, Hyun JW. et al. A longitudinal brain magnetic resonance imaging study of neuromyelitis optica spectrum disorder. PLoS One 2014; 9 (09) e108320
  • 12 Collongues N, Marignier R, Zéphir H. et al. Long-term follow-up of neuromyelitis optica with a pediatric onset. Neurology 2010; 75 (12) 1084-1088
  • 13 Demuth S, Collongues N. Disease-modifying treatments for neuromyelitis optica spectrum disorder in the context of a new generation of biotherapies. Rev Neurol (Paris) 2024;
  • 14 Pizzolato Umeton R, Waltz M, Aaen GS. et al; US Network of Pediatric MS Centers. Therapeutic response in pediatric neuromyelitis optica spectrum disorder. Neurology 2023; 100 (09) e985-e994
  • 15 Traboulsee A, Greenberg BM, Bennett JL. et al. Safety and efficacy of satralizumab monotherapy in neuromyelitis optica spectrum disorder: a randomised, double-blind, multicentre, placebo-controlled phase 3 trial. Lancet Neurol 2020; 19 (05) 402-412
  • 16 Yamamura T, Kleiter I, Fujihara K. et al. Trial of satralizumab in neuromyelitis optica spectrum disorder. N Engl J Med 2019; 381 (22) 2114-2124