Acute peripheral neuropathy due to hereditary coproporphyria.
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.
Barohn
R J
RJ
Department of Neurology, University of Texas-Southwestern Medical Center, Dallas 75235-9036.
Sanchez
J A
JA
Anderson
K E
KE
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