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Rat Model of Photochemically-Induced Posterior Ischemic Optic Neuropathy

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Neuropathy in erythropoietic protoporphyrias

S A Muley¹, H A Midani, J M Rank

¹Department of Neurology, University of Minnesota, Minneapolis 55455, USA.

|July 23, 1998

Summary

Peripheral neuropathy (PN) is a rare complication of erythropoietic protoporphyria (EPP). Early recognition of PN in EPP patients is crucial for timely management and favorable outcomes.

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Area of Science:

Biochemistry
Neurology
Genetics

Background:

Erythropoietic protoporphyria (EPP) is a rare genetic disorder of heme biosynthesis.
Peripheral neuropathy (PN) is an uncommon complication associated with EPP, particularly in cases with hepatic involvement.

Observation:

This study details three episodes of PN in two patients diagnosed with EPP.
Electrophysiologic studies were conducted to characterize the neuropathy in these patients.

Findings:

Peripheral neuropathy in EPP presents similarly to that observed in acute intermittent porphyria.
Neuropathy is associated with hepatic failure and elevated levels of free erythrocyte protoporphyrin or serum protoporphyrin.

Implications:

Recognizing PN as a complication of EPP is essential for accurate diagnosis and treatment.
Prompt identification and management of PN in EPP patients can lead to a good long-term prognosis.