Korean Journal of Pediatric Gastroenterology and Nutrition  2005;8(2):263-268

A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms.

Bo Hyun KIM 1 ; Young Nyun PARK ; Ki Sup CHUNG

Affiliations

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Keywords

Erythropoietic protoporphyria; Neurological symptoms; Liver dysfunction

Country

Republic of Korea

Language

Korean

Abstract

Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Severe hepatic failure occurs in a small percentage of patients, and neurological symptoms are very rare. We report a case of erythropoietic protoporphyria associated with severe hepatic dysfunction and neurological symptoms. A 9-year-old girl presented with severe abdominal pain, nausea, weakness and pain of extremities, and urinary retention. Ultrasonogram and abdominal CT scanning revealed a diffuse infiltrated and enlarged liver. Liver biopsy showed deposition of dense dark brown pigment within the bile, hepatocytes and Kupffer cells. Plus, dense dark brown deposits gave a red birefringent under polarize light. Porphyrin studies demonstrated markedly elevated serum free erythrocyte protoporphyrin. This girl was diagnosed as erythropoietic protoporphyria with severe liver dysfunction and neurological symptoms.