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Amphiphysin paraneoplastic syndrome: a delayed diagnosis of breast carcinoma
Dianne Georgian-Smith1, Georgiana K Ellis, George H Kraft
1Department of Radiology, Breast Imaging, Massachusetts General Hospital, Boston, Massachusetts 02114, USA. dgeorgiansmith@partners.org
Abstract:
We present a rare case of the paraneoplastic disorder, amphiphysin autoimmunity, which is associated with breast cancer. Amphiphysin is a presynaptic protein to which the body can form antibodies usually in cases of carcinoma, particularly of the breast and lung. The diagnosis of malignancy was delayed because of the complexity of the presenting neurologic symptoms related to the autoimmunity. The confusing picture and the rarity of the entity can result in delays in routine investigations, such as screening mammography. We advocate routine screening and physical examination in all patients, even in the presence of perplexing clinical symptoms.