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Case 346.

Anthony Sposato1, Maria A Mazzola2, Mara M Kunst1

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This case study highlights a patient with initial symptoms of neurological dysfunction, initially diagnosed as posterior reversible encephalopathy syndrome. Subsequent evaluation revealed progressive mood alterations, psychosis, and seizures, underscoring the complexity of diagnosing rare neurological conditions.

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Area of Science:

  • Neurology
  • Neuroimaging
  • Clinical Case Study

Background:

  • A 66-year-old man presented with acute neurological symptoms including jaw jerking, aphasia, and dysarthria.
  • Initial investigations including brain MRI revealed nonspecific hyperintensities, ruling out common infectious, inflammatory, vascular, or neoplastic causes.

Purpose of the Study:

  • To present a complex neurological case with an atypical presentation and diagnostic challenges.
  • To discuss the differential diagnosis and management of unexplained neurological symptoms.

Main Methods:

  • Comprehensive diagnostic workup including advanced neuroimaging (MRI), extensive serologic testing for infectious, autoimmune, and paraneoplastic etiologies, and cerebrospinal fluid analysis.
  • Clinical assessment and monitoring of patient's response to initial treatment.

Main Results:

  • Initial extensive workup was negative for specific etiologies, leading to a presumptive diagnosis of posterior reversible encephalopathy syndrome (PRES).
  • The patient experienced a significant delay in diagnosis and management due to loss to follow-up.
  • Three years later, the patient presented with mood alterations, psychosis, and seizures, requiring repeat evaluation.

Conclusions:

  • This case underscores the importance of considering a broad differential diagnosis in patients with complex neurological presentations.
  • Atypical presentations and delayed diagnosis can significantly impact patient outcomes.
  • Further investigation and long-term follow-up are crucial for managing challenging neurological cases.