title: Acute peripheral neuropathy due to hereditary coproporphyria.
abstract: A 23-year-old man with epilepsy and a past history of abdominal pain and ileus, developed hypertension and arm and bulbar weakness when valproic acid and carbamazepine were reinitiated. Electrophysiologic studies demonstrated a peripheral neuropathy with features of axonal degeneration and demyelination. Axonal degeneration was documented by sural nerve biopsy. Markedly elevated urinary delta-aminolevulinic acid and porphobilinogen indicated a diagnosis of acute porphyria. Other laboratory studies were most consistent with hereditary coproporphyria. Motor function improved considerably but incompletely over 1 year. An acute, primarily motor neuropathy can occur in several forms of porphyria, including acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, sometimes even in the absence of concomitant gastrointestinal symptoms.
authors.affiliation: Department of Neurology, University of Texas-Southwestern Medical Center, Dallas 75235-9036.
authors.forename: R J
authors.initials: RJ
authors.lastname: Barohn
authors.forename: J A
authors.initials: JA
authors.lastname: Sanchez
authors.forename: K E
authors.initials: KE
authors.lastname: Anderson
mesh_terms: D000208:Acute Disease; D000328:Adult; D004568:Electrodiagnosis; D006801:Humans; D008297:Male; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis / Q000209:etiology* / Q000503:physiopathology; D017094:Porphyrias, Hepatic / Q000150:complications*; D013497:Sural Nerve / Q000473:pathology