Neuromyelitis optica spectrum disorder

Neuromyelitis optica spectrum disorder (NMOSD) is a rare, autoimmune disease of the central nervous system (CNS) that primarily attacks the optic nerves and spinal cord leading to blindness and paralysis

Neuropathic pain is a localized sensation of unpleasant discomfort caused by damage or disease that affects the somatosensory system.

It is a common and debilitating consequence of neuromyelitis optica spectrum disorder (NMOSD) myelitis, with no satisfactory treatment.

1. Multiple Sclerosis (MS) Both NMOSD and MS can cause optic neuritis and myelitis. MS is characterized by multiple lesions disseminated in time and space on MRI, while NMOSD typically shows fewer, more localized lesions. 2. Acute Disseminated Encephalomyelitis (ADEM) Often post-infectious or post-vaccination, ADEM presents with encephalopathy and multifocal neurological deficits. MRI shows multifocal white matter lesions; however, recovery is usually more complete than in NMOSD. 3. Idiopathic Transverse Myelitis Characterized by inflammation of the spinal cord without a defined cause, it can resemble NMOSD. Often lacks the optic neuritis component and does not typically have AQP4-IgG antibodies. 4. Systemic Lupus Erythematosus (SLE) Neuropsychiatric lupus can cause similar symptoms, including myelitis and optic neuritis. Characterized by systemic manifestations and specific autoantibodies. 5. Sarcoidosis Neurosarcoidosis can lead to similar neurological symptoms. MRI may show granulomatous lesions, and diagnosis often requires histological confirmation. 6. Vasculitis Conditions such as Behçet’s disease or primary central nervous system vasculitis can present with optic neuritis and myelitis. Blood tests and imaging can help identify underlying vascular pathology. 7. Infectious Myelitis Viral infections (like herpes viruses or enteroviruses) can cause myelitis and neurological symptoms. Cerebrospinal fluid (CSF) analysis can reveal infectious agents. 8. Tumors Intramedullary or extramedullary tumors can cause myelopathy and possibly compress the optic nerves. Imaging studies like MRI can help differentiate tumors from inflammatory processes. 9. Other Autoimmune Disorders Conditions such as Sjögren’s syndrome or antiphospholipid syndrome can present with similar neurological features. Diagnostic Approach Clinical History and Examination: A thorough history, including symptom onset, duration, and associated features. MRI: To assess lesions in the brain and spinal cord. Serological Tests: Including AQP4-IgG and other autoantibodies. CSF Analysis: To check for oligoclonal bands, elevated protein, and inflammatory markers.

Early differential diagnosis of NMOSD and cervical spondylotic myelopathy (CSM) in acute myelopathy can be made by analyzing images and the number, length, sagittal enhancement pattern, and axial involvement of gadolinium-enhanced lesions ¹⁾.

a 50-year-old caucasian man presenting with lumbar pain, bilateral ataxia, central facial palsy, ophthalmoparesis and urinary retention. Cerebral MRI hinted a hyperintensity of the medulla oblongata and cervical medulla suggestive of myelitis. Cerebrospinal fluid displayed lymphocytic pleocytosis and elevated protein concentration. Without the possibility to rule out an infectious or inflammatory aetiology, antibiotics and corticosteroids were started. Nevertheless, neurological status deteriorated with loss of muscle strength and left eye amaurosis. A neuroaxis MRI exhibited encephalomyelitis with signal abnormalities involving the pons, medulla oblongata, left optic nerve and cervicodorsal medulla. Although negative for aquaporin-4-IgG antibodies, the patient fulfilled criteria for seronegative neuromyelitis optica spectrum disorder with the presence of multiple core clinical characteristics. Through early institution of corticosteroids, plasma exchange and Rituximab, good functional recovery was achieved (Expanded Disability Status Scale score of 2). However, left eye amaurosis persisted despite salvage therapy with intravenous immunoglobulin ²⁾.