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신경 및 위장관 증세를 동반한 Erythropoietic Protoporphyria 환아 1예

Other Titles
 A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms 
Authors
 김보현  ;  박영년  ;  정기섭 
Citation
 Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지), Vol.8(2) : 263-268, 2005 
Journal Title
 Korean Journal of Pediatric Gastroenterology and Nutrition (대한소아소화기영양학회지) 
ISSN
 1229-0114 
Issue Date
2005
MeSH
Erythropoietic protoporphyria ; Neurological symptoms ; Liver dysfunction
Keywords
Erythropoietic protoporphyria ; Neurological symptoms ; Liver dysfunction
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.
Files in This Item:
T200500674.pdf Download
DOI
OAK-2005-04053
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
Yonsei Authors
Park, Young Nyun(박영년) ORCID logo https://orcid.org/0000-0003-0357-7967
Chung, Ki Sup(정기섭)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/150584
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