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Related Experiment Videos

Acute intermittent porphyria presenting as a diffuse encephalopathy.

Boby V Maramattom1, Renzo A Zaldivar, Simon M Glynn

  • 1Division of Critical Care Neurology, Mayo Clinic College of Medicine, Rochester, MN, USA.

Annals of Neurology
|March 24, 2005
PubMed
Summary

Acute intermittent porphyria can cause severe neurological symptoms, making diagnosis challenging. Characteristic MRI findings, including contrast enhancement, can help differentiate it from other conditions like PRES.

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Area of Science:

  • Neurology
  • Radiology
  • Medical Imaging

Background:

  • Acute intermittent porphyria (AIP) is a rare metabolic disorder.
  • AIP diagnosis is often delayed due to nonspecific neurological symptoms.
  • Porphyric encephalopathy presents with diverse neurological manifestations.

Observation:

  • An 18-year-old female presented with symptoms suggestive of porphyric encephalopathy.
  • Magnetic resonance (MR) imaging revealed multiple large, contrast-enhancing subcortical white matter lesions.
  • Symptoms and MRI findings improved following glucose and hematin infusions.

Findings:

  • Diffusion-weighted MR imaging and MR spectroscopy were normal, ruling out acute demyelination or necrosis.
  • Intense contrast enhancement on MR imaging distinguished these lesions from posterior reversible encephalopathy syndrome (PRES).

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  • Lesions are attributed to reversible vasogenic edema and transient blood-brain barrier disruption.

    • Implications:

    • Advanced MR imaging techniques aid in diagnosing challenging AIP cases.
    • Understanding these specific MR findings is crucial for differentiating AIP from PRES.
    • Reversible nature of lesions highlights the importance of timely treatment for AIP.