Qualitative evidence of anti-Ri specific intrathecal antibody synthesis and quantification of anti-Ri antibodies in serial samples from a patient with anti-Ri syndrome.

摘要

Anti-Ri associated paraneoplastic neurological syndrome was initially described in patients suffering from breast or lung malignancy and presenting with opsoclonus, myoclonus, and ataxia. Since anti-Ri antibodies have been reported to react both with central neuronal cells and with tumour tissue of patients with anti-Ri antibodies and breast cancer, they are believed to reflect an autoimmune process.Ten years after treatment for breast cancer, a 66 year old woman presented with complete horizontal gaze palsy to the right, jaw opening and neck dystonia, and slight ataxia of the upper extremities. No opsoclonus or myoclonus was observed. Four months previously a relapsing tumour in the lymph nodes of the right axilla had been treated with extirpation and radiotherapy; afterwards the patient was discharged on tamoxifen. MRI of the brain was normal. CSF cell count and protein were normal and no malignant cells were observed. Increased IgG index (1.1) indicated intrathecal antibody synthesis. Anti-Ri serum antibodies were detected by immunoblot with recombinant Ri protein. Apart from the gaze palsy, the patient Improved after high dose treatment with methylprednisolone for 3 weeks. However, despite concurrent immunosuppressive treatment with cortisone and azathioprine, the patient developed truncal instability, slight appendicular ataxia, cervical dystonia, and severe tetraspasticity and became wheelchair bound. MRI of the cervical myelon revealed signs suggestive of myelopathy. Repeated, extensive searches found no hint of tumour relapse. Therapy with cyclophosphamide (700 mg/m~2 with a 6 week gap between courses) resulted in improvement of symptoms. The patient is able to walk some steps with help and jaw opening dystonia has also improved, but the gaze palsy is unchanged.