Korean J Pediatr Gastroenterol Nutr.  2005 Sep;8(2):263-268.

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

• Kim BH
• Park YN
• Chung KS

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.

Keyword

Erythropoietic protoporphyria; Neurological symptoms; Liver dysfunction

MeSH Terms

Abdominal Pain
Bile
Biopsy
Child
Erythrocytes
Extremities
Female
Ferrochelatase
Hepatocytes
Hepatomegaly
Humans
Kupffer Cells
Liver Diseases*
Liver Failure
Liver*
Nausea
Protoporphyria, Erythropoietic*
Tomography, X-Ray Computed
Ultrasonography
Urinary Retention
Ferrochelatase