Acute intermittent porphyria presenting as a diffuse encephalopathy

Boby V. Maramattom, Renzo A. Zaldivar, Simon M. Glynn, Scott D. Eggers, Eelco F.M. Wijdicks

Research output: Contribution to journalArticle

29 Scopus citations

Abstract

Although acute intermittent porphyria presents with dramatic neurological findings, the diagnosis is difficult. An 18-year-old woman had a clinical picture of porphyric encephalopathy. Magnetic resonance (MR) imaging demonstrated multiple large contrast-enhancing subcortical white matter lesions, which regressed with glucose and hematin infusions. Diffusion-weighted MR imaging was normal, and MR spectroscopy excluded acute demyelination or tissue necrosis. MR findings of acute intermittent porphyria can differ from those in posterior reversible encephalopathy syndrome by virtue of intense contrast enhancement. Because diffusion-weighted MR imaging and spectroscopy were normal, the lesions are likely caused by reversible vasogenic edema and transient breakdown of the blood-brain barrier.

Original languageEnglish (US)
Pages (from-to)581-584
Number of pages4
JournalAnnals of neurology
Volume57
Issue number4
DOIs
StatePublished - Apr 1 2005

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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    Maramattom, B. V., Zaldivar, R. A., Glynn, S. M., Eggers, S. D., & Wijdicks, E. F. M. (2005). Acute intermittent porphyria presenting as a diffuse encephalopathy. Annals of neurology, 57(4), 581-584. https://doi.org/10.1002/ana.20432