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Case Report/Case Series |

Paraneoplastic Neuromyelitis Optica Spectrum Disorder Associated With Metastatic Carcinoid Expressing Aquaporin-4

Michelle Figueroa, MD1; Yong Guo, MD2; Alexandros Tselis, MD, PhD1; Sean J. Pittock, MD2; Vanda A. Lennon, MD, PhD2,3,4; Claudia F. Lucchinetti, MD2; Robert P. Lisak, MD1,5
[+] Author Affiliations
1Department of Neurology, Wayne State University School of Medicine, Detroit, Michigan
2Department of Neurology, Mayo Clinic College of Medicine, Rochester, Minnesota
3Department of Laboratory Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota
4Department of Pathology and Immunology, Mayo Clinic College of Medicine, Rochester, Minnesota
5Department of Immunology and Microbiology, Wayne State University School of Medicine, Detroit, Michigan
JAMA Neurol. 2014;71(4):495-498. doi:10.1001/jamaneurol.2013.6331.
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Importance  Reports of neuromyelitis optica spectrum disorder (NMOSD) occurring in the setting of neoplasia suggest that aquaporin-4 autoimmunity may in some cases have a paraneoplastic basis.

Observations  In this case report, we describe a patient with NMOSD whose test results were seropositive for aquaporin-4 IgG and who had a hepatic metastasis from a small-bowel neuroendocrine tumor. The tumor cells expressed aquaporin-4 immunoreactivity. She presented to the Neurology Department at Wayne State University with bilateral leg weakness, ascending paresthesias, and decreased sensation.

Conclusions and Relevance  This case extends the context of NMOSD as a paraneoplastic disorder.

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Figure 1.
1.5-T Magnetic Resonance Imaging Scan of Spine

A, Sagittal T2 turbo inversion recovery magnitude image of the spine. The arrowheads indicate the caudal and rostral limits of T2 increased signal. B, Sagittal T1 image of the spine. C, Sagittal T1 image of the spine postinfusion of gadolinium. The arrowhead indicates the area of gadolinium enhancement. A indicates anterior; H, head.

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Figure 2.
Aquaporin-4 Immunoreactivity in Carcinoid Tumor Cells

A, There is a sharp border between the hypercellular tumor (lower left) and normal liver parenchyma (upper right; hematoxylin and eosin). B, Tumor cells are shaped irregularly with hyperchromatic nuclei and pink cytoplasm (hematoxylin and eosin). C, Aquaporin-4–positive tumor cells (reddish cytoplasm) are relatively sparse and scattered within nests of nonimmunoreactive tumor cells (arrowheads). D, Aquaporin-4 immunoreactivity appears to be predominately cytoplasmic (arrowheads). Scale bars indicate 100 μm (A), 20 μm (B and C), and 10 μm (D).

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