신경 및 위장관 증세를 동반한 Erythropoietic Protoporphyria 환아 1예

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

본 저자들은 심한 간 부전과 함께 복통, 구토, 의식 변화, 사지 마비, 배뇨 장애 및 호흡부전을 동반한 EPP 예를 경험하였기에 보고하는 바이다.

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.