Fulminant and fatal onset of pan-aquaporinopathy

Mult Scler Relat Disord. 2019 Sep:34:116-118. doi: 10.1016/j.msard.2019.06.029. Epub 2019 Jun 24.

Abstract

Early administration of high-dose steroids and plasma exchange (PE) offers the best chance of treating neuromyelitis optica spectrum disease (NMOSD) attacks, but up to 20% of patients fail to respond. We report the case of a first devastating NMOSD attack leading to death despite optimal treatment. While receiving steroids during a bilateral blinding optic neuritis, this female patient suffered a severe attack involving the spinal cord and circumventricular organs (CVOs), including the pineal gland. Early adjunctive daily PE failed to prevent sudden death. AQP4-antibodies were strongly positive. To our knowledge, this is the first case of exceptionally severe monophasic NMOSD leading to full-blown lesions in all AQP4-expressing sites. Lesions of the periventricular ependyma and CVOs are highly exceptional and the involvement of the pineal gland, which is also a CVO, is novel. Moreover, the patient's condition continued to worsen until death, without any sign of recovery. We term this unexpected outcome the 'anti-Lazarus effect'. Although the mechanisms of resistance to treatment remain elusive, very early initiation of immunosuppressive drugs or adjunctive salvage therapies could be envisioned to manage these devastating attacks.

Keywords: Circumventricular organs; Death; Neuromyelitis optica; Plasma exchange; Relapse.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Aquaporin 4 / immunology*
  • Circumventricular Organs / diagnostic imaging
  • Circumventricular Organs / immunology
  • Fatal Outcome
  • Female
  • Humans
  • Neuromyelitis Optica / diagnostic imaging
  • Neuromyelitis Optica / immunology*
  • Neuromyelitis Optica / therapy*
  • Plasma Exchange
  • Recurrence
  • Severity of Illness Index

Substances

  • Aquaporin 4