04134 An unusual case of variegate porphyria with nerve enlargement, conduction block and idiopathic intracranial hypertension

asthenia, reduced diuresis, constipation, and insomnia.She also experienced episodes of lower extremity paresthesias and clonus.Hospitalization in January 2023 included instrumental examinations to assess potential organic abnormalities related to reported symptoms, alongside genetic testing revealing a pathogenic variant c.917dup in the CPOX gene, confirming hereditary coproporphyria.Imaging studies identified two small aneurysms: one dysmorphic at the bifurcation of the right middle cerebral artery, and the other sac-like at the bifurcation of the left middle cerebral artery.Despite no apparent association with coproporphyria, these findings underscored the importance of preventing acute porphyria crises to mitigate aneurysmal rupture risk.Neurosurgical consultation recommended regular MRI monitoring.Initiation of Givosiran therapy was planned but delayed due to hospitalization in April 2023 for acute hepatitis secondary to initial HCV infection.After completing eradication therapy, she commenced Givosiran therapy in July 2023, resulting in prompt subjective symptom improvement and normalization of ALA and PBG levels.She remained asymptomatic, reporting enhanced quality of life post-treatment.This case highlights the co-occurrence of hereditary coproporphyria with multiple cerebral aneurysms, emphasizing the necessity for comprehensive diagnostic evaluations to exclude other underlying pathologies.Notably, it underscores the significant symptomatic improvement and enhanced quality of life achieved withGivosiran therapy, reflecting its efficacy in managing porphyria-associated symptoms.