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Adult-onset Rasmussen's encephalitis with anti-AMPA receptor antibodies.

Joshua Chin Ern Ooi1, Lip Sheng Tan2, Yun Xiu Yong2

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This case study details a 49-year-old woman with adult-onset Rasmussen's encephalitis. Despite initial immunotherapy for anti-AMPA receptor encephalitis, treatment with cyclophosphamide led to functional recovery, highlighting diagnostic and treatment complexities.

Keywords:
IMMUNOLOGYNEUROIMMUNOLOGYNEURORADIOLOGY

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Area of Science:

  • Neuroscience
  • Immunology
  • Neurology

Background:

  • Rasmussen's encephalitis is a rare, chronic inflammatory neurological disease characterized by progressive unilateral cerebral hemisphere destruction.
  • Adult-onset cases are uncommon and present diagnostic challenges, sometimes mimicking other autoimmune or inflammatory encephalitides.

Purpose of the Study:

  • To report a unique case of adult-onset Rasmussen's encephalitis with co-occurring anti-AMPA receptor antibodies.
  • To discuss the diagnostic and therapeutic complexities in managing such cases.
  • To emphasize the spectrum of Rasmussen's encephalitis, including varying humoral components.

Main Methods:

  • Clinical presentation of focal seizures and neurological deficits.
  • Electroencephalography (EEG) demonstrating focal slowing.
  • Magnetic Resonance Imaging (MRI) revealing hemispheric atrophy and cortical hyperintensities.
  • Cerebrospinal fluid (CSF) analysis for autoantibodies, specifically anti-AMPA receptor antibodies.
  • Treatment response assessment to immunotherapy and cyclophosphamide.

Main Results:

  • The patient presented with focal seizures and right hemispheric abnormalities on EEG and MRI.
  • Anti-AMPA receptor autoantibodies were detected in CSF, but immunotherapy was ineffective.
  • Progressive unihemispheric atrophy consistent with Rasmussen's encephalitis was observed on follow-up MRI.
  • Significant functional recovery was achieved with cyclophosphamide treatment.

Conclusions:

  • Adult-onset Rasmussen's encephalitis presents diagnostic and treatment challenges, particularly with atypical serological findings.
  • The co-occurrence of anti-AMPA receptor antibodies requires careful interpretation and does not exclude Rasmussen's encephalitis.
  • Cyclophosphamide can be an effective treatment for adult-onset Rasmussen's encephalitis.
  • Rasmussen's encephalitis should be viewed as a spectrum involving T-cell-mediated pathways with variable humoral contributions.