Table 2 –
Alternative diagnoses misinterpreted as NMOSD
| Genetic/metabolic diseases (n=20) | Biotinidase deficiency (n= 9) |
| OPA1 gene mutation (n=3) | |
| Leber hereditary optic neuropathy (n=3) | |
| Copper deficiency (n=2) | |
| B12 deficiency (n=1) | |
| MTFMT deficiency (n=1) | |
| Alexander disease (n=1) | |
|
| |
| Neoplasms (n=11) | Primary CNS lymphoma (n=3) |
| Primary spinal cord glioblastoma multiforme (n=1) | |
| Primary CNS histiocytic sarcoma (n=1) | |
| Primary intracranial germinoma (n=1) | |
| Primary spinal cord oligoastrocytoma (n=1) | |
| Anaplastic astrocytoma (n=1) | |
| B-cell lymphoma (n=1) | |
| Optic nerve sheath meningioma (n=1) | |
| High grade glioma (n=1) | |
|
| |
| Infections (n=11) | Tuberculous myelopathy associated with optic neuropathy (n=2) |
| Subacute sclerosing panencephalitis (n=1) | |
| Amoebic encephalitis (n=1) | |
| Varicella Zoster virus myelitis (n=1) | |
| Syphilitic optic neuropathy (n=1) | |
| Spinal toxoplasmosis (n=1) | |
| Chikungunya associated myelitis (n=1) | |
| HIV optic neuropathy (n=1) | |
| C. Bantiana infectious myelitis (n=1) | |
| Intramedullary spinal cord abscess (n=1) | |
|
| |
| Systemic autoimmune diseases (n=9) | Neurosarcoidosis (n=3) |
| Sjogren syndrome (n=2) | |
| Neuro-Bechet (n=2) | |
| SLE (n=1) | |
| Undifferentiated connective tissue disease (n=1) | |
|
| |
| Vascular diseases (n=8) | Dural arteriovenous fistula (n=7) |
| Spinal cord infarction (n=1) | |
|
| |
| Compressive myelopathy (n=5) | Spondylotic myelopathy (n=5) |
|
| |
| Neurologic autoimmune diseases (n=4) | CRMP5-IgG-associated myelitis (n=2) |
| Clippers (n=1) | |
| GFAP astrocytopathy (n=1) | |
Abbreviations – CNS = central nervous system; CRMP5 = collapsing response mediated protein 5; GFAP = glial fibrillary acidic protein; HIV = human immunodeficiency virus; MTFMT = mitochondrial methionyl-tRNA formyltransferase; SLE = systemic lupus erythematosus;