Leigh syndrome mimicking neuromyelitis optica spectrum disorder (NMOSD)

We report two children with molecularly confirmed mitochondrial disease mimicking Neuromyelitis Optica Spectrum Disorder (NMOSD). The first patient presented at the age of 15 months with acute deterioration following a pyrexial illness with clinical features localising to the brainstem and spinal co...

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Bibliographic Details
Published in:Multiple sclerosis 2023-06, Vol.29 (7), p.889-892
Main Authors: Kim, Nee Na, Abdel-Mannan, Omar, Davidson, James, Du Pre, Pascale, Kneen, Rachel, Mankad, Kshitij, Hacohen, Yael
Format: Article
Language:English
Subjects:
Aquaporin 4
Brain stem
Genetic screening
Mimicry
Neuromyelitis
Oligodendrocyte-myelin glycoprotein
Spinal cord
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Summary:We report two children with molecularly confirmed mitochondrial disease mimicking Neuromyelitis Optica Spectrum Disorder (NMOSD). The first patient presented at the age of 15 months with acute deterioration following a pyrexial illness with clinical features localising to the brainstem and spinal cord. The second patient presented at 5 years with acute bilateral visual loss. In both cases, MOG and AQP4 antibodies were negative. Both patients died within a year of symptoms onset from respiratory failure. Arriving at an early genetic diagnosis is important for redirection of care and avoiding potentially harmful immunosuppressant therapies.
ISSN:1352-4585
1477-0970
DOI:10.1177/13524585231172950