Abstract
Stiff person syndrome (SPS) is a rare clinical disorder presenting with progressive muscle stiffness and painful spasms. Its ill-defined mechanism and variable presentation make diagnosis a challenge, though it is associated with a range of specific auto-antibodies. One particular antibody, anti-amphiphysin, is found in the presence of breast or lung malignancy and leads to a disorder termed paraneoplastic SPS (PSPS). Our patient, an 83-year-old woman, presented with bilateral leg weakness, spasms, and left clubfoot over a period of three months. She also reported a lump in her left breast for which she had not sought treatment over the past 10 years. Her ankle radiograph was negative for fractures and dislocations, while an MRI of the left leg was negative for plexopathies. Electromyography was suggestive of an SPS disorder and a positive anti-amphiphysin test indicated a diagnosis of PSPS. Her symptoms were managed with baclofen, diazepam, and five cycles of therapeutic plasma exchange (TPEX) over 10 days. Breast imaging revealed a 4.5-cm left breast lesion, later biopsy-confirmed as invasive ductal carcinoma (ER+, PR+, HER2−). The patient declined definitive surgical management, opting instead for once-daily anastrozole 1 mg as hormonal therapy. This regimen was not sufficient to lead to symptomatic improvement over a period of more than 30 days, and the patient expired less than 45 days after discharge. To our knowledge, this is the first case of PSPS to be treated in this manner. Our report illustrates that conservative management with anastrozole monotherapy was not sufficient to lead to symptomatic improvement in this form of paraneoplastic syndrome, suggesting the need for more aggressive pharmacological or definitive surgical intervention in order to produce symptom improvement and/or resolution.
Highlights
Stiff person syndrome (SPS) is part of an exceedingly rare spectrum of SPS disorders
In rare cases of breast and lung malignancy, it can present with anti-amphiphysin antibodies and is termed paraneoplastic SPS (PSPS)[3]
We present a case of PSPS in the setting of occult breast malignancy
Summary
Stiff person syndrome (SPS) is part of an exceedingly rare spectrum of SPS disorders. Case presentation The patient was an 83-year-old Caucasian woman who presented with bilateral leg weakness, painful leg spasms, and left talipes equinovarus (Figure 1) Her symptoms started three months prior to presentation, but worsened rapidly and severely limited her ambulation. Electromyography showed spontaneous ongoing muscle activity at rest, and co-activation of agonist/antagonist muscle groups in the bilateral lower extremities, indicating a central process like SPS She was given diazepam and baclofen for symptom relief and, after confirmation of positive neuronal anti-amphiphysin antibodies in the cerebrospinal fluid, the patient underwent five cycles of therapeutic plasma exchange (TPEX) over a period of 10 days. Breast imaging identified a 4.5-cm left breast mass (Figure 3), with regional spread to the left
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