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Stiff person syndrome masquerading as multiple sclerosis.

Joseph J Sabatino1, Scott D Newsome2

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Stiff person syndrome (SPS) can mimic multiple sclerosis (MS), delaying diagnosis. Early consideration of SPS in patients with atypical neurological symptoms is crucial for accurate diagnosis and treatment.

Keywords:
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Area of Science:

  • Neuroimmunology
  • Neurology

Background:

  • Stiff person syndrome (SPS) is a rare neuroimmunological disorder.
  • SPS symptoms overlap with other neuroinflammatory diseases like multiple sclerosis (MS), often leading to diagnostic delays.

Purpose of the Study:

  • To highlight the diagnostic challenges of SPS.
  • To emphasize the importance of considering SPS in patients initially diagnosed with MS.

Main Methods:

  • Retrospective chart review of over 100 SPS patients.
  • Identification of five patients with prior MS diagnosis.

Main Results:

  • Patients presented with typical and atypical SPS features, initially misdiagnosed as MS.
  • Brain MRIs showed non-specific white matter lesions; CSF was largely uninformative.
  • Elevated anti-glutamic acid decarboxylase (GAD65) antibodies confirmed SPS diagnosis in all cases.
  • Some patients received MS therapies before SPS diagnosis.

Conclusions:

  • SPS can be misdiagnosed as MS due to overlapping symptoms and imaging findings.
  • Consideration of less common neuroimmunological disorders like SPS is vital, particularly with atypical presentations.
  • Prompt SPS diagnosis and appropriate treatment can lead to stabilization or improvement.