Neuromyelitis optica spectrum disorder (NMOSD) is a rare inflammatory disease of the central nervous system (CNS), often associated with characteristic findings of bilateral optic neuritis and transverse myelitis. We present a case report of a 25-year-old African American man with both classical and non-classical findings, who initially presented with left eye blindness, emesis, and headache rapidly progressing within two weeks to profound encephalopathy, akinetic mutism, intractable hiccups, and diffuse quadriparesis.

MRI Brain on presentation revealed T2/FLAIR signal abnormality involving bilateral medial thalami and hypothalamus. Repeat MRI Brain five days later revealed new T2/FLAIR signal abnormality involving the dorsal medulla (area postrema syndrome). Early differential diagnoses included: autoimmune encephalitis, demyelinating disorders such as NMOSD, a variant form of acute disseminated encephalomyelitis (ADEM) or atypical Multiple Sclerosis (MS), Wernicke Encephalopathy or CNS lymphoma. Serial lumbar punctures revealed a lymphocytic pleocytosis with normal glucose and protein and unremarkable cytology. Therefore, the patient was treated with IVIG 2g/kg, IV methylprednisolone 1g x 5 days and high-dose IV thiamine. Serum and cerebrospinal studies ultimately revealed positive anti-aquaporin 4 antibodies, for which the patient was initiated on plasma exchange x 7 sessions starting week three of his disease course. The patient’s neurologic status continued to decline, resulting in acute hypoxic respiratory failure requiring tracheostomy and jejunostomy placement. Given the severity of his condition, rituximab and tocilizumab were initiated.