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Anti-Ma2 antibodies (Ma2-Ab) were originally described in men with testicular cancer and paraneoplastic damage to the limbic system and the diencephalon.1 Fewer than 20 women with Ma2-Ab have been identified, and those had lung or breast cancer.1–3 We report a case of a woman with the typical clinical and immunologic presentation of diencephalitis associated with Ma2-Ab. Unexpectedly, neuropathologic findings were characteristic of neurosarcoidosis.
Case report.
A 52-year-old woman had an unexplained weight gain of 30 kg between December 2005 and June 2006. Endocrinal evaluation had identified panhypopituitarism. Excessive daytime sleepiness associated with atonic episodes appeared in mid 2008. The CSF level of hypocretin was normal, and a polysomnogram showed excess slow waves but normal sleep architecture. Brain MRI showed T2 hypersignal and gadolinium enhancement in the diencephalon (figure, A and B). The CSF was mildly lymphocytic (20/mm3) with elevated protein concentration (1.56 g/L). Bacterial cultures and viral serologies were negative. Antibodies against nuclear antigens, DNA, neutrophil cytoplasm, thyroid, mitochondria, actin, transglutaminase, endomysium, glutamate decarboxylase, and gliadin were all negative. Angiotensin converting enzyme concentration was normal in serum. CSF onconeuronal antibody detection by the dot blot assay (Ravo Diagnostika GmbH, Freiburg, Germany) revealed a strong reaction against the Ma2 antigen. The presence of Ma2-Ab in both CSF and (weakly) in serum …
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