A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
; : 263-268, 2005.
Article
em Ko
| WPRIM
| ID: wpr-202891
Biblioteca responsável:
WPRO
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.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Bile
/
Biópsia
/
Tomografia Computadorizada por Raios X
/
Dor Abdominal
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Retenção Urinária
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Ultrassonografia
/
Falência Hepática
/
Hepatócitos
/
Protoporfiria Eritropoética
/
Eritrócitos
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Female
/
Humans
Idioma:
Ko
Revista:
Korean Journal of Pediatric Gastroenterology and Nutrition
Ano de publicação:
2005
Tipo de documento:
Article