Neuromyelitis optica antibody in Leber hereditary optic neuropathy: case report

Pearls & Oy-sters: Leber Hereditary Optic Neuropathy-Plus Masquerading as Neuromyelitis Optica Spectrum Disorder in a 2-Year-Old Child

“…While there are multiple pediatric case reports of LHON-Plus, to our knowledge our patient is the youngest to present with neurologic symptoms consistent with the disease. 11,12 Our patient's presentation was dominated by severe encephalopathy with an associated medullary lesion, which, combined with the patient's very young age and inability to participate in the visual examination, likely obfuscated the trademark vision loss of LHON. However, her monophasic course, presumed lack of ocular pain traditionally associated with optic neuritis, and family history of LHON were clues to her diagnosis.…”

Involvement of the Spinal Cord in Primary Mitochondrial Disorders: A Neuroimaging Mimicker of Inflammation and Ischemia in Children

“…Possible associations linking NMOSD and mitochondrial disorders have been considered for many years, mainly based on a few patients who demonstrated imaging similarities of NMOSD in the context of having a diagnosis of Leber hereditary optic neuropathy (LHON). 19,20 As one example, Hudson et al 21 sequenced the mtDNA genes commonly known to cause LHON in patients with NMOSD, in addition to specific mtDNA haplogroups that are preferentially associated with pathogenic variants in complex I mtDNA gene that cause LHON, in both patients with NMOSD and control participants. The authors did not find any statistically significant association between these 2 disorders.…”

A case of neuromyelitis optica harboring both anti-aquaporin-4 antibodies and a pathogenic mitochondrial DNA mutation for Leber’s hereditary optic neuropathy

“…To the best of our knowledge, only one LHON patient was reported to have serum anti-AQP4 antibodies, and showed only optic nerve symptoms (diagnosed as NMO spectrum disorder). 6 Two LHON patients were documented as having spinal cord lesions resembling NMO. 7,8 However, both cases were reported before the discovery of anti-AQP 4 antibodies, and their serostatus for these antibodies is unknown.…”