科研之友
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摘要
a 4-month-old female patient was taken to hospital due to increase in abdominal volume, cyanosis and fever for two months. at examination, she presented hepatosplenomegaly. laboratory tests revealed hypochromic anemia (due to iron deficiency), leucocytosis, low platelet count and altered hepatic functions. innate metabolic error was suspected. follow-up developed unfavorably and she died. at necropsy, the liver was cirrhotic, with large iron deposits in the parenchyma. necropsy diagnosis was haemochromatosis, and laboratorial results confirmed type 1 tyrosinemia. either primary haemochromatosis or tyrosinemia could cause hepatic cirrhosis. tyrosinemia may also cause iron deposits in the liver parenchyma, similar to those observed in secondary haemochromatosis. such facts can make differential diagnosis difficult between these and other conditions such as hereditary haemochromatosis. in fact, differential diagnosis is only achievable by using laboratorial tests for innate metabolic errors.
