title: Acute intermittent porphyria: clinicopathologic correlation. Report of a case and review of the literature.
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.
authors.affiliation: Department of Neurology, University Hospitals of Cleveland, Case Western Reserve University, OH, USA.
authors.forename: J I
authors.initials: JI
authors.lastname: Suarez
authors.forename: M L
authors.initials: ML
authors.lastname: Cohen
authors.forename: J
authors.initials: J
authors.lastname: Larkin
authors.forename: C A
authors.initials: CA
authors.lastname: Kernich
authors.forename: D E
authors.initials: DE
authors.lastname: Hricik
authors.forename: R B
authors.initials: RB
authors.lastname: Daroff
mesh_terms: D000328:Adult; D002318:Cardiovascular Diseases / Q000209:etiology; D017809:Fatal Outcome; D006801:Humans; D007010:Hyponatremia / Q000209:etiology; D008297:Male; D009422:Nervous System Diseases / Q000209:etiology / Q000473:pathology; D017118:Porphyria, Acute Intermittent / Q000150:complications / Q000175:diagnosis / Q000473:pathology