Abstracts from XVII Mexican Congress of Hepatology
More infoThis study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia.
Case Summarya two-year four-month-old male infant presented with gastroenteritis, which three days later was initiated with jaundice and drowsiness. On physical examination: jaundice, hematemesis, abdominal distention and hepatomegaly (3 × 2 × 2cm). Laboratory results: pancytopenia, incalculable coagulation test, hydroelectrolytic disorders, hyperbilirubinemia, increased transaminases, hyperammonemia, lactic acidosis, and negative viral hepatitis panel. Abdominal USG: liver with irregular borders, starry sky appearance, increased echogenicity of the right kidney and free fluid compatible with cirrhosis. He died on the second day of hospitalization with a diagnosis of multiple organ failure secondary to fulminant hepatic failure. A liver wedge biopsy reports chronic liver disease, severe acute activity, and fibrosis. Histological image is compatible with tyrosinemia. Newborn metabolic screening, without result.
DiscussionType I tyrosinemia (hepatorenal) is an autosomal recessive aminoacidopathy caused by a deficiency of the enzyme fumarylacetoacetate-hydrolase, generating accumulation of metabolites fumarylacetoacetate and maleylacetoacetate leading to hepatic cell damage. Its prevalence is 1:100,000, debuting with liver failure, coagulopathy, gastrointestinal bleeding, jaundice, ascites, hepatomegaly, hypoglycemia and peripheral neuropathy. In this case, the patient was admitted with hepatopathy of unknown etiology; most likely, pathologies were ruled out, and finally, with suspicion of a metabolic disorder, he died before confirming the diagnosis with a compatible biopsy and clinical picture.
ConclusionTyrosinemia belongs to the group of inborn errors of metabolism; although rare, its early diagnosis can be made through newborn metabolic screening, improving its prognosis and survival, as it is unfavorable in advanced stages.
Declaration of interestThe authors declare no potential conflicts of interest.
Table 1. Evolution of biochemical data
