Kim, NN;
Abdel-Mannan, O;
Davidson, J;
Du Pre, P;
Kneen, R;
Mankad, K;
Hacohen, Y;
(2023)
Leigh syndrome mimicking neuromyelitis optica spectrum disorder (NMOSD).
Multiple Sclerosis Journal
, 29
(7)
pp. 889-892.
10.1177/13524585231172950.
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Abstract
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.
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