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Leber’s hereditary optic neuropathy (LHON) is a rare mitochondrial disorder with male preponderance with sequential visual loss due to optic neuropathy. More than 90% of the carriers become symptomatic before 50 years of age, with peak age of onset in the second and third decades of life. Extraocular manifestation, such as parkinsonism and myelopathy can be encountered in some patients but they are rarely the first manifestation of the disease.

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We present a case of a 76-year-old woman who developed parkinsonism and progressive myelopathy as initial presentation of LHON.

In November 2020, she developed bradykinesia, shuffling gait and a tremor in her hands. She was diagnosed with parkinsonism and underwent a trial of Sinemet without improvement.

In October 2022 she developed gait difficulty, blurry vision and urinary retention. MRI of the brain and spine showed diffuse abnormal T2/FLAIR signal intensity with mild enhancement in the bilateral proximal optic tracts, optic chiasm, and optic nerves and hyperintensities involving the lateral and posterior columns from cervical cord to conus medullaris. Labs showed B12 351, MMA 350, positive intrinsic factor antibody and low B1 71. Paraneoplastic workup was negative. IL2 soluble receptor was elevated. CSF showed elevated protein to 75. Exam notable for vision limited to hand waving bilaterally, reduced sensation to pin prick and vibration up to elbows, decreased lower extremity strength, diffusely brisk reflexes. In June 2023, she presented with worsening vision and progressive weakness becoming wheelchair bound. Genetic testing for LHON was positive for 14484 T>C mutation in ND6 gene.

Despite being known to have a peak age of onset between 20-30 years, male preponderance and primarily vision loss, a diagnosis of LHON should be considered in a female patient with vision impairment and extraocular involvement with parkinsonism and myelopathy with negative workup for vascular/ infectious/ autoimmune etiology.