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August 1954

PORPHYRIA: A Clinical and Neuropathologic Report

Author Affiliations


From the Department of Neurology, University of Pennsylvania School of Medicine; supported in part by the Kirby-McCarthy Fund.

AMA Arch Intern Med. 1954;94(2):221-247. doi:10.1001/archinte.1954.00250020055004

PORPHYRIA is considered to be an "inborn error" in the metabolism of the porphyrins.* Many of its clinical manifestations are neurologic or psychiatric or both. Indeed, it does not seem to be unusual to have the metabolic disorder discovered only after the neuropsychiatric symptoms have developed. This imposes a responsibility on the part of the physician to be alert to the possibility of such a process in appropriate neurologic and psychiatric cases and to be acquainted with the symptoms and signs produced by this disorder of pyrrole metabolism. For this reason, we wish to report three cases illustrating the different clinical features of the disease and the neuropathologic changes observed in two of them.


Case 1.  —N. T., a Negro girl, aged 17, was admitted to the hospital on April 9, 1944, complaining of vomiting and pain in the right side of her abdomen. These symptoms had

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