Male breast cancer discovered after years of stiff-person syndrome

What happened, in summary

A 53-year-old man developed progressive stiffness, painful cramps, numbness, and difficulty walking. Testing eventually found anti-amphiphysin antibodies and supported a diagnosis of stiff-person syndrome, but repeated cancer screening initially found no malignancy. Three years after his neurologic symptoms began, repeat imaging showed a left retroareolar breast mass. Biopsy confirmed invasive ductal carcinoma that was estrogen receptor-positive, progesterone receptor-positive, and HER2-negative. Cancer was also found in an axillary lymph node. He underwent a left modified radical mastectomy. Pathology showed a 2.2 cm grade 2 tumor with one of 11 lymph nodes involved and extranodal extension. He then received six cycles of cyclophosphamide, methotrexate, and fluorouracil every three weeks. A taxane was avoided because of concern that neuropathy could further impair his mobility. Post-mastectomy radiation and tamoxifen followed. The patient said the diagnosis finally gave him a tangible explanation and a treatment path after years of uncertainty. The mastectomy was less painful than expected, although managing the drains was cumbersome. He recovered for about five days after each chemotherapy cycle, while the final ten radiation treatments were especially painful. By two years after surgery, upper-body symptoms had improved substantially, but stiffness and weakness remained greatest in his legs and feet.