Document Type
Article
Publication Date
7-5-2022
Journal
Neurology
Volume
99
Issue
1
First Page
31
Last Page
35
URL with Digital Object Identifier
10.1212/WNL.0000000000200712
Abstract
A 40-year-old woman was admitted for 6 months of progressive gait disturbance, lower limb-predominant weakness, stiffness, falls, jaw dystonia, horizontal diplopia, and weight loss. Neurologic examination revealed horizontal gaze paresis, limited jaw opening with palpable masseter hypertrophy, and spastic paraparesis with sustained clonus and upgoing plantar responses. MRI revealed T2-hyperintense signal abnormalities in the dorsal pons, medulla, and upper cervical cord central gray matter extending to C3, without gadolinium enhancement. CSF showed mildly elevated protein and immunoglobulin (IgG) index with CSF-specific oligoclonal bands. Neural autoantibody testing was positive for anti-Ri in CSF and serum by mouse brain indirect immunofluorescence and immunoblot. Testing for aquaporin-4 (AQP4)-IgG and myelin oligodendrocyte glycoprotein (MOG)-IgG by cell-based assay was negative. The patient received methylprednisolone 1 g for 5 days and IV immunoglobulin 2 g/kg over 2 days with prednisone taper and botulinum toxin injections for jaw dystonia. PET-CT revealed an enlarged left axillary lymph node with high FDG uptake. Left axillary lymph node biopsy confirmed high-grade, locally invasive breast adenocarcinoma. Neurologic stabilization was documented at 2-week follow-up after hospital discharge before modified radical mastectomy. Our case demonstrates a clinical triad highly suggestive of anti-Ri-associated paraneoplastic neurologic syndrome (Ri-PNS): gait instability, jaw dystonia, and horizontal gaze paresis. The more slowly progressive course and poor response to immunotherapy help distinguish it from AQP4-IgG-seropositive neuromyelitis optica spectrum disorder (NMOSD) and MOG-IgG-associated disease (MOGAD) that share similar radiographic features. Early diagnosis, prompt immunotherapy, and cancer treatment are paramount for disease stabilization.