Acute intermittent porphyria: Clinicopathologic correlation. Report of a case and review of the literature

J. I. Suarez, M. L. Cohen, J. Larkin, C. A. Kernich, D. E. Hricik, R. B. Daroff

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Abstract

Acute intermittent porphyria (AIP), an autosomal dominant disorder, results from a deficiency of the enzyme hydroxymethylbilane synthase. Despite important advances in the characterization of AIP, the pathophysiology of the neurologic manifestations is not clearly understood. We present a patient with AIP followed for 31 years with multiple episodes of hyponatremia during AIP exacerbations. We discuss the clinicopathologic correlation and possible explanations for the morphologic findings, including discrete hypothalamic changes.

Original languageEnglish (US)
Pages (from-to)1678-1683
Number of pages6
JournalNeurology
Volume48
Issue number6
DOIs
StatePublished - Jun 1997

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ASJC Scopus subject areas

  • Clinical Neurology

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