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- W569376906 abstract "Abstract We present a case of a 9-month-old boy referred to hospital with suspicion for malignancy. Additional tests revealed hepatomegaly, laboratory markers of liver failure and elevated levels of alpha-fetoprotein. During hospitalization patient's condition deteriorated rapidly. Based on performed test a preliminary diagnosis of tyrosinemia type 1 was made. Final diagnosis was established in the Children's Health Institute. In the repeated GC/MS test a presence of succinylacetone was detected. Specific treatment was introduced. Neoplastic cells were not found in liver biopsy. Due to advanced neurological damages patient was disqualified from getting liver transplant. The presented case reminds how important is to take into consideration inborn errors of metabolism in differential diagnosis of hepatomegaly. One must remember that tumor markers such as AFP and CEA have only additional role in diagnostic process. Final diagnosis cannot be made only based on them. We hope, that thanks to the newborn metabolic screening started in Wielkopolska Region in October 2012, and in whole Poland in November 2013, this case will be the last case of late recognized tyrosinemia type 1." @default.
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- W569376906 date "2015-05-01" @default.
- W569376906 modified "2023-10-17" @default.
- W569376906 title "Trudności w rozpoznaniu tyrozynemii typu 1 z perspektywy onkologa – opis przypadku" @default.
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- W569376906 doi "https://doi.org/10.1016/j.pepo.2015.02.005" @default.
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