Search

Collapsin response-mediator protein 5 (CRMP5) immunoglobulin G (IgG) has been associated with paraneoplastic optic neuritis, vitritis, retinitis, or a combination thereof, but few reports of these findings exist in the literature. We reviewed the neuro-ophthalmic findings and visual outcomes in a large series of CRMP5 IgG–positive patients to characterize further its clinical phenotype and response to treatment. Retrospective case series. Seventy-six patients with CRMP5 autoimmunity examined at the Mayo Clinic, Rochester, Minnesota. Single academic medical center chart review of all CRMP5 IgG–positive (serum titer, >1:240) patients seen between 2001 and 2017. Neuro-ophthalmic manifestations and outcomes of CRMP5 autoimmunity, coexisting neural autoantibody presence and paraneoplastic associations, and the impact of immunosuppressant therapy. Twenty-nine of 76 patients (38%) demonstrated neuro-ophthalmic manifestations. Of the 29 patients with neuro-ophthalmic findings, the median age was 67 years (range, 33–88 years) and 20 (69%) were women. Cancer was diagnosed in 62% of the patients (small-cell carcinoma in 83%). Neuro-ophthalmic symptoms occurred before the diagnosis of cancer in 72%. Seventeen of 29 patients (59%) showed ocular (i.e., anterior visual pathway or intraocular) manifestations; presenting median visual acuity was 20/50 (range, 20/20–counting fingers) and the final median visual acuity was 20/40 (range, 20/20–hand movements). Fourteen of 17 patients (82%) demonstrated optic neuropathy, with 12 of these patients also showing retinitis or uveitis. Three of 17 patients (18%) showed retinitis or uveitis without optic neuropathy. All 12 patients with optic neuropathy and a documented fundus examination at visual symptom onset demonstrated optic disc edema. No patients showed optic nerve enhancement on magnetic resonance imaging. Twelve of 29 patients (41%) demonstrated ocular motility dysfunction consisting of central nystagmus and diplopia. Among those receiving immunosuppressive therapy, visual function improved in 50%. In our cohort of 29 CRMP5 IgG–positive patients with neuro-ophthalmic manifestations, optic neuropathy presented with optic disc edema, often associated with uveitis, retinitis, or both. The combination of retinitis, vitritis, and optic disc edema without optic nerve enhancement should prompt serologic testing for CRMP5 IgG to expedite vision-sparing immunosuppressant therapy and a targeted search for a systemic cancer. [ABSTRACT FROM AUTHOR]

• Objective: To analyze clinical presentation of and paraclinical test abnormalities in patients with paraneoplastic limbic encephalitis (PLE). • Patients and Methods: We retrospectively reviewed 24 patients seen at the Mayo Clinic in Rochester, Minn, between 1985 and 2002 in whom PLE was suspected. Patients were identified on the basis of clinical history and presence of cancer. Data were reviewed from magnetic resonance imaging (MRI), cerebrospinal fluid (CSF) analysis, electroencephalography (EEG), and paraneoplastic serologic studies. • Results: Common manifestations were cognitive dysfunction (92%), seizures (58%), and psychiatric symptoms (50%); 13 patients had small cell lung carcinoma; 11 had other malignancies. Paraneoplastic neuronal autoantibodies were found in 14 (64%) of 22 patients tested. Electroencephalography showed focal or generalized slowing and/ or epileptiform activity, maximal in the temporal regions, in all 22 patients tested. Magnetic resonance imaging revealed increased T2 signal involving one or both temporal lobes in 15 (83%) of 18 patients. Cerebrospinal fluid test results were abnormal in 18 (78%) of 23 patients tested. Clinical or radiographic evidence of extralimbic involvement was documented in 12 (55%) of 22 patients. No abnormality on EEG, MRI, or CSF analysis correlated with a specific cancer type or with a specific paraneoplastic autoantibody. • Conclusions: In patients with suspected PLE, EEG is invaluable for confirming cerebral dysfunction. Magnetic resonance imaging can show unequivocal involvement of temporolimbic structures and helps exclude other diagnoses. When EEG and cranial MRI are both normal, PLE is unlikely. Comprehensive testing for paraneoplastic neuronal nuclear, cytoplasmic, and ion channel autoantibodies is an important part of the evaluation, but negative results do not rule out PLE. [ABSTRACT FROM AUTHOR]