{
  "abstract": "Opticospinal syndrome (concurrent involvement of the optic nerve and spinal cord) in young adults is usually caused by an immune-mediated disease, such as multiple sclerosis, neuromyelitis optica spectrum disorder or myelin oligodendrocyte glycoprotein antibody-associated disease. These conditions typically respond to corticosteroids and follow a relapsing-remitting course. We report a man with opticospinal syndrome, who initially appeared steroid-responsive, but was subsequently found to have a pathogenic mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, causing folate deficiency and associated neurological complications. Skin hyperpigmentation had suggested a metabolic cause, such as adrenoleukodystrophy or a disorder of cobalamin metabolism. Importantly, steroid responsiveness alone is not diagnostic for inflammatory and demyelinating disorders.",
  "authors": [
    {
      "affiliations": [
        "All India Institute of Medical Sciences, New Delhi, Delhi, India"
      ],
      "name": "Sidharth Rao Errabelly"
    },
    {
      "affiliations": [
        "All India Institute of Medical Sciences, New Delhi, Delhi, India"
      ],
      "name": "Eeshaan Agrawal"
    },
    {
      "affiliations": [
        "Department of Neurology, All India Institute of Medical Sciences, New Delhi, Delhi, India"
      ],
      "name": "Prachi Mohapatra"
    },
    {
      "affiliations": [
        "Department of Neuroimaging and Interventional Neuroradiology, All India Institute of Medical Sciences, New Delhi, Delhi, India"
      ],
      "name": "Ajay Garg"
    },
    {
      "affiliations": [
        "Department of Neurology, All India Institute of Medical Sciences, New Delhi, Delhi, India"
      ],
      "name": "Arunmozhimaran Elavarasi"
    }
  ],
  "title": "Folate metabolism disorder presenting as an opticospinal syndrome",
  "uid": "bf5317bf-b62a-59e1-8838-97fa8c0a9e85"
}