Case Presentation: This is the case of a 44-year-old Hispanic male with a history of polysubstance use (alcohol, marijuana and cocaine) and vitamin B12 deficiency presented to the emergency department with lower limb weakness, fasciculations, spasms, paresthesia, ataxia, left-sided blurry vision, emesis and intractable hiccups for several days. He initially symptoms started in September 2018 with ataxia and intractable vomiting for which he was diagnosed with alcoholic neuropathy, vitamin B12 deficiency, cannabinoid hyperemesis syndrome and peptic ulcer disease. He presented in January 2019 at a nearby hospital where he had a lumbar puncture performed and was diagnosed with Multiple Sclerosis (MS), although lab results were still pending from that hospital stay after being admitted to our facility.At our facility, his physical exam was notable for 4/5 strength in all extremities, 3+ right patellar reflex, positive Babinski, and unbalanced slow-paced gait. Urine drug screen was positive for cocaine and marijuana. MRI revealed cervical and thoracic transverse myelitis. Notably, he presented with area postrema clinical syndrome—intractable nausea, vomiting, and hiccups—which occurs with brainstem involvement. Labs from outside hospital arrived and showed ESR level=6, vitamin B12=364, TSH=0.14, negative RF, negative HIV with CSF analysis demonstrating oligoclonal bands=0, M-spike not observed, and NMO IgG=48.8. With the patient’s symptoms, imaging and NMO-IgG antibodies, he met criteria for and was diagnosed with Neuromyelitis Optica (NMO). Our neurologist recommended initial management with IV methylprednisolone because plasmapheresis, the gold standard for treatment, was unavailable at our facility and lateral transfer could not be established. Treatment was started with intravenous immunoglobulins for 4 days and achieved moderate symptom relief. He was discharged on a moderate-dose prednisone taper, gabapentin, baclofen and diazepam for neuropathic pain and muscle spasms. He was counseled on illicit drug cessation, as possible exacerbation of symptoms may occur, and established follow up with neurology.
Discussion: Neuromyelitis optica (previously Devic Disease) is an inflammatory disease of the central nervous system, characterized by immune-mediated demyelination and axonal damage, and leads to severe disability. NMO is distinct from MS with respect to pathogenesis, biomarkers, imaging findings, neuropathology, and treatment. This case illustrates the importance of clinically distinguishing two similar diseases, obtaining keen history taking and keeping a broader differential. A small detail of intractable hiccups led us to inquire more about the patient’s symptoms and extend our differential which helped us to diagnose NMO and manage the patient appropriately.
Conclusions: This patient presented with a complex medical history with confounding signs. Few key details can sway a physician’s diagnosis and management. Accurate and detailed history taking is sometimes neglected with increased dependence on diagnostic technology (i.e. imaging or labs). Different cognitive biases may have led to this patient’s delayed diagnosis. Chart lore with early closure diagnoses and social habits may have led to framing biases by other clinicians. We could have been led astray by diagnostic momentum after all, our patient had paperwork diagnosing him with MS, it would have been simple to go along with the diagnosis.