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Acute peripheral neuropathy due to hereditary coproporphyria
Author(s) -
Barohn Richard J.,
Sanchez Jose A.,
Anderson Karl E.
Publication year - 1994
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880170715
Subject(s) - medicine , acute intermittent porphyria , porphyria , peripheral neuropathy , porphobilinogen , carbamazepine , gastroenterology , epilepsy , diabetes mellitus , endocrinology , psychiatry
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 carbarnazepine 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 8‐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. © 1994 John Wiley & Sons, Inc.