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

Alex Baumgartner, Peter J. Quesenberry


Hereditary coproporphyria (HCP) is the third most common of the acute porphyrias, after acute intermittent porphyria and variegate porphyria. It is caused by decreased activity of the sixth step in the heme biosynthetic pathway. Here we present a case of a woman with HCP who has experienced a wide variety of symptoms over several years. Most interesting among these is a unique neuropsychiatric syndrome marked by severe confusion, disorientation, and abnormal behavior. The literature is reviewed regarding the pathophysiology and management of neuropsychiatric manifestations of porphyria. As many other diagnoses are often considered before the diagnosis of porphyria is made, clinicians should keep in mind the highly variable neurological and psychiatric symptoms of porphyria.

J Hematol. 2017;6(1):21-24
doi: https://doi.org/10.14740/jh315w


Coproporphyria; Neuropsychiatry

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