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Acute peripheral neuropathy due to hereditary coproporphyria
R J Barohn1, J A Sanchez, K E Anderson
1Department of Neurology, University of Texas-Southwestern Medical Center, Dallas 75235-9036.
Muscle & Nerve
|July 1, 1994
Summary
Anticonvulsant medications, valproic acid and carbamazepine, can trigger acute porphyria, leading to peripheral neuropathy. This condition, characterized by nerve damage, may manifest even without typical gastrointestinal symptoms.
Area of Science:
- Neurology
- Toxicology
- Genetics
Background:
- Epilepsy management often involves anticonvulsant medications such as valproic acid and carbamazepine.
- Acute porphyrias are a group of rare metabolic disorders affecting heme synthesis.
Observation:
- A 23-year-old male with epilepsy experienced hypertension and neurological deficits (arm and bulbar weakness) upon reinitiation of valproic acid and carbamazepine.
- Electrophysiologic studies revealed a peripheral neuropathy with both axonal degeneration and demyelination.
- Sural nerve biopsy confirmed axonal degeneration.
Findings:
- Elevated urinary delta-aminolevulinic acid and porphobilinogen levels confirmed acute porphyria.
- Laboratory results were most consistent with hereditary coproporphyria.
- The patient's motor function showed incomplete recovery over one year.
Implications:
- This case highlights that acute, predominantly motor neuropathy can be a presenting feature of various acute porphyrias, including hereditary coproporphyria.
- The neuropathy may occur even without the classic gastrointestinal symptoms associated with porphyria attacks.
- Clinicians should consider acute porphyria in patients presenting with unexplained neuropathy, especially when exposed to certain anticonvulsant drugs.