Hereditary coproporphyria: unusual nervous system involvement in two cases

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Hereditary coproporphyria (HCP) is a rare autosomal dominant disorder of heme biosynthesis.
• It is caused by a deficiency in the enzyme coproporphyrinogen oxidase (CPOX).
• HCP is known to cause acute neurovisceral attacks, but neurological involvement can be more varied.

Observation:

• This study presents two cases of HCP with distinct neurological manifestations.
• Case 1: Epilepsy with onset in childhood.
• Case 2: Chronic central and peripheral nervous system damage.

Findings:

• The observed neurological presentations in these cases are unusual for hereditary coproporphyria.
• Epilepsy in childhood and chronic neurodegeneration expand the known spectrum of HCP's neurological impact.
• These findings suggest a need for broader neurological surveillance in HCP patients.

Implications:

• Understanding the diverse neurological manifestations of HCP is crucial for accurate diagnosis and management.
• Further research into the mechanisms underlying neurological damage in HCP is warranted.
• This case series contributes to the literature on the complex interplay between heme biosynthesis disorders and the nervous system.