A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms.
- Author:
Bo Hyun KIM
1
;
Young Nyun PARK
;
Ki Sup CHUNG
Author Information
1. Department of Pediatrics, Yonsei University College of Medicine, Seoul, Korea. kschung58@yumc.yonsei.ac.kr
- Publication Type:Case Report
- Keywords:
Erythropoietic protoporphyria;
Neurological symptoms;
Liver dysfunction
- MeSH:
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
- From:Korean Journal of Pediatric Gastroenterology and Nutrition
2005;8(2):263-268
- CountryRepublic 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.
