Objective: To report the case of a 69-year-old woman with rapidly progressive ataxia.

Background: Various cases exist in the literature of rapidly progressive ataxia secondary to paraneoplastic cerebellar degeneration (PCD). The most common autoantibody implicated in PCD is anti-Yo antibody also known as Purkinje cell cytoplasmic antibody type 1 (PCA1) typically seen in pelvic or breast tumors. Other autoantibodies have also been implicated, some of which are not commonly tested in routine paraneoplastic panels. In addition, many autoantibodies have yet to be discovered.

Methods: A case of rapidly progressive ataxia due to an undetermined paraneoplastic disorder is described.

Results: A 69-year-old woman presented for evaluation of ataxia. Her earliest symptom was difficulty walking due to imbalance two months prior to presentation, resulting in falls and requiring a cane and ultimately a walker to ambulate. Neurological examination revealed scanning speech, gaze fixation instability with square wave jerks, saccadic intrusions of smooth pursuit, downbeat gaze-evoked nystagmus in upgaze and downgaze, intermittent head titubation, truncal ataxia, dysmetria, and dysdiadochokinesia. Routine laboratory work, MRI brain and total spine without contrast, EEG, serum ataxia panel, and lumbar puncture studies were unremarkable. Serum and CSF paraneoplastic panels were negative, however, the initial serum immunofluorescence demonstrated an undefined fluorescence pattern on cerebellum and hippocampus substrates, but this was not replicated on repeat study. CT chest, CTAP, pelvic ultrasound were negative. Given concern for an undetermined paraneoplastic syndrome, she was treated empirically with plasmapheresis and IVIG with minimal improvement and FDG-PET was performed which revealed thoracic lymphadenopathy and a pelvic mass. The mass was biopsied and pathology showed adenocarcinoma consistent with serous adenocarcinoma of mullerian origin.

Conclusions: While anti-Yo antibody is the most common autoantibody produced in PCD, other less commonly tested antibodies have also been implicated. Cerebellar injury from underlying malignancy may also result from T-cell activation. Here we described a case of rapidly progressive ataxia with underlying pelvic cancer but without autoantibody identification. Given false negatives can occur, further workup to identify an underlying malignancy is indicated for high clinical suspicion.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/rapidly-progressive-ataxia-caused-by-an-undetermined-paraneoplastic-disorder-a-case-report/