Download PDF
Neuropediatrics
DOI: 10.1055/a-2579-9997
Videos and Images in Neuropediatrics

Central Vestibular Syndrome in Leber Hereditary Optic Neuropathy “Plus”

Gianluca D'Onofrio 
1   Division of Neurology, Centre Hospitalier de l'Université de Montréal, Montreal, Québec, Canada
,
Julie Dery
2   Department of Radiology, CHU Ste-Justine, Université de Montréal, Montreal, Québec, Canada
,
Aristides Hadjinicolaou 
3   Division of Pediatric Neurology, Department of Neurosciences, CHU Sainte-Justine, University of Montréal, Québec, Canada
› Author Affiliations
› Further Information
Also available at
    Permissions and Reprints

We report the case of a 14-year-old male with a known diagnosis of Leber's Hereditary Optic Neuropathy (LHON; variant m.14484T > C, p.Met64Val, with 99.9% heteroplasmy) and a family history of LHON “Plus.” Ocular manifestations appeared at the age of 10, with progressive improvement in the 6 to 12 months following onset and subsequent stability.

The patient presented with subacute onset of persistent nausea, recurrent vomiting, and subjective vertigo exacerbated by movement over a period of 2 to 3 months without any visual changes. A brain MRI revealed bilateral signal abnormalities in the vestibular nuclei ([Fig. 1]), which normalized on follow-up imaging after 9 months ([Fig. 2]) without specific treatment, except for ubiquinone (CoQ10) supplementation at a dose of 100 mg twice daily. A progressive improvement in vestibular symptoms was concomitantly observed, leading to complete resolution at approximately 9 months after onset. An autoimmune workup on serum and cerebrospinal fluid was negative.

Zoom Image
Fig. 1 (A) Axial T2 spin echo inversion recovery (SPIR). (B) Coronal T2 turbo spin echo (TSE). (C) Axial diffusion B-1000 showing abnormal bilateral hyperintensities of the vestibular nuclei (white arrow).
Zoom Image
Fig. 2 (A) Axial T2 spin echo inversion recovery (SPIR). (B) Coronal T2 turbo spin echo (TSE). (C) Axial diffusion B-1000 showing complete resolution of the vestibular nuclei hyperintensities.

Bilateral brainstem lesions resembling Leigh syndrome are a rare but documented complication of LHON “Plus.”[1] Patients harboring the variant m.14484T > C are known to have a higher rate of spontaneous improvement of vision than patients with other mutations.[2] This could also be related to the spontaneous recovery of vestibular symptoms.

Authors' Contributions

Study conception and design: G.D'O. and A.H. Data collection, analysis, and interpretation of results: G.D'O. and A.H. Draft manuscript preparation: G.D'O. Figures preparation: J.D. All authors reviewed the results and approved the final version of the manuscript.




Publication History

Received: 25 February 2025

Accepted: 09 April 2025

Accepted Manuscript online:
10 April 2025

Article published online:
30 April 2025

© 2025. Thieme. All rights reserved.

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

 

  • References

  • 1 La Morgia C, Caporali L, Gandini F. et al. Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions. BMC Neurol 2014; 14: 116
    PubMedSearch in Google Scholar
  • 2 Chen BS, Newman NJ. Clinical trials in Leber hereditary optic neuropathy: outcomes and opportunities. Curr Opin Neurol 2025; 38 (01) 79-86
    PubMedSearch in Google Scholar