A Unique Neuropsychiatric Syndrome in Variant Hereditary Coproporphyria: Case Report and Review of the Literature

Area of Science:

• Biochemistry
• Genetics
• Neurology

Background:

• Hereditary coproporphyria (HCP) is the third most common acute porphyria.
• It results from a deficiency in the heme biosynthetic pathway, specifically the sixth enzyme.
• Acute porphyrias are a group of rare genetic disorders affecting heme production.

Observation:

• A case study of a woman with HCP presenting diverse symptoms over several years.
• The patient exhibited a unique neuropsychiatric syndrome characterized by severe confusion, disorientation, and behavioral changes.
• These symptoms often lead to misdiagnosis, delaying the identification of porphyria.

Findings:

• The study highlights the complex and varied clinical manifestations of HCP.
• Neuropsychiatric symptoms are a significant, though often overlooked, feature of HCP.
• Review of literature on the pathophysiology and management of porphyria's neuropsychiatric aspects.

Implications:

• Clinicians should consider HCP in patients with unexplained neurological and psychiatric symptoms.
• Increased awareness of HCP's diverse presentations can improve diagnostic accuracy.
• Understanding the link between heme pathway defects and neuropsychiatric dysfunction is vital for patient care.