Paraneoplastic neuromyelitis optica spectrum disorder associated with metastatic carcinoid expressing aquaporin-4

JAMA Neurol. 2014 Apr;71(4):495-8. doi: 10.1001/jamaneurol.2013.6331.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aquaporin 4 / biosynthesis
  • Aquaporin 4 / genetics*
  • Carcinoid Tumor / complications
  • Carcinoid Tumor / diagnosis
  • Carcinoid Tumor / genetics*
  • Female
  • Gene Expression Regulation / immunology
  • Humans
  • Intestinal Neoplasms / diagnosis
  • Intestinal Neoplasms / genetics*
  • Intestinal Neoplasms / immunology
  • Liver Neoplasms / diagnosis
  • Liver Neoplasms / genetics*
  • Liver Neoplasms / secondary
  • Middle Aged
  • Neuromyelitis Optica / diagnosis
  • Neuromyelitis Optica / genetics*
  • Neuromyelitis Optica / immunology
  • Paraneoplastic Syndromes, Nervous System / diagnosis
  • Paraneoplastic Syndromes, Nervous System / genetics*
  • Paraneoplastic Syndromes, Nervous System / immunology


  • AQP4 protein, human
  • Aquaporin 4