A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms / 대한소아소화기영양학회지
Korean Journal of Pediatric Gastroenterology and Nutrition
;
: 263-268, 2005.
Article
Dans Coréen
| WPRIM
| ID: wpr-202891
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Bile
/
Biopsie
/
Tomodensitométrie
/
Douleur abdominale
/
Rétention d'urine
/
Échographie
/
Défaillance hépatique
/
Hépatocytes
/
Protoporphyrie érythropoïétique
/
Érythrocytes
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Femelle
/
Humains
langue:
Coréen
Texte intégral:
Korean Journal of Pediatric Gastroenterology and Nutrition
Année:
2005
Type:
Article
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