Objective: To present a rare case of opsoclonus with positive anti-Ri (ANNA-2) autoantibodies, secondary to synchronous multiple primary tumors.

Background: Opsoclonus refers to involuntary, conjugate, saccadic eye movements, irregular in amplitude and frequency, occurring in all directions of gaze. The most common reported etiologies of opsoclonus are paraneoplastic, infectious, metabolic and idiopathic. Usually, opsoclonus is observed as part of a syndrome with myoclonus and ataxia. In adults, it is usually associated with breast carcinoma or non-small cell lung cancer.  A subgroup of patients presenting with paraneoplastic opsoclonus is found to have Anti-Ri (also known as type 2 antineuronal nuclear antibody autoantibodies), which are directed against intracellular neuronal proteins.

Method: Case Report

Results: 66 year old female presented with abnormal eye movements, diplopia, dizziness and difficulty ambulating for 2 months. Physical exam showed opsoclonus, dysmetria and ataxia. No myoclonus. Prominent left axillary lymph nodes were noted.  A neoplastic workup was done, CT abdomen showed a right renal mass. MRI Brain showed no signs of malignancy. CSF showed a lymphocyte predominant leukocytosis, no malignant cells. Serum and CSF autoimmune panels were sent to Mayo Clinic, suspecting and underlying paraneoplastic process. While waiting for the results, the patient was started on IVIG 2g/kg divided over 3 days, which improved her symptoms. She underwent a biopsy of her renal mass, confirming a diagnosis of renal cell carcinoma. A biopsy of her left axillary lymph nodes evidenced metastatic carcinoma, consistent with primary breast cancer. Her serum and CSF paraneoplastic panels were positive for anti-Ri antibodies. The patient underwent right radical nephrectomy and is currently awaiting systemic therapy for breast cancer and renal cell carcinoma.

Conclusion: Our case reflects the fact that the presence of opsoclonus and ataxia (even without the full syndrome accompanied by myoclonus) strongly suggests the presence of an underlying malignancy, especially when accompanied by positive serology. This is also the first case to our knowledge of paraneoplastic opsoclonus and ataxia, with positive ANNA-2 serology related to a synchronous malignancy of renal cell carcinoma and breast carcinoma, a rare occurrence on its own.  Our patient’s symptoms improved with immunotherapy, even in the setting of multiple primary malignancies.

References: [1] Koukoulis A, Cimas I, Gomara S. Paraneoplastic opsoclonus associated with papillary renal cell carcinoma. J Neurol Neurosur Ps. 64(1):137-8, 1998 [2] Yang Y, Shum H, Haigentz M, Mariuma E, Suhrland M, Maleki S, Acevedo N, Gulko E, Farinhas J, Welch M. Anti-Ri antibody associated paraneoplastic brainstem and cerebellar dysfunction as the presenting sign of small cell lung carcinoma. Neurology. 84 (14 Supplement) P4.237, 2015. [3] Arjunan R, Kumar D, Kumar KV, Premlatha CS. Breast cancer with synchronous renal cell carcinoma: a rare presentation. J Clin Diagn Res. Oct;10(10):XD03, 2016

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MDS Abstracts - https://www.mdsabstracts.org/abstract/opsoclonus-and-ataxia-in-the-setting-of-synchronous-primary-malignancies/