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Inicio Annals of Hepatology Tyrosinemia in a toddler, a case report
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Vol. 27. Núm. S3.
Abstracts from XVII Mexican Congress of Hepatology
(diciembre 2022)
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Vol. 27. Núm. S3.
Abstracts from XVII Mexican Congress of Hepatology
(diciembre 2022)
Open Access
Tyrosinemia in a toddler, a case report
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GA Gómez Vidrio, M Lescas Orozco, MR Lara Tostado, I Suárez Ponce, FA Reynoso Zarzosa
University Hospital of Puebla, BUAP. Mexico
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Vol. 27. Núm S3

Abstracts from XVII Mexican Congress of Hepatology

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Introduction and Objectives

This study aimed to present the case of a toddler with acute-on chronic liver failure probably related to tyrosinemia.

Case Summary

a 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.

Discussion

Type 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.

Conclusion

Tyrosinemia 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 interest

The authors declare no potential conflicts of interest.

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Table 1. Evolution of biochemical data

  02.09.2021  03.09.2021  04.09.2021 
Hemoglobin  13.7    10.2 
Hematocrit  40.1    32.3 
Leukocytes  22.26    3.08 
Neutrophils  77%    30% 
Band cells  21%    10% 
Platelet  211,000    56,000 
PT  No coagula    33 
PTT  No coagula    47.4 
D-dimer  791     
Total bilirubin  15.4  15.4  11.1 
Direct bilirubin  8.9  8.4  6.2 
Indirect bilirrubin  6.5  4.9 
AST  2435  1145  753 
ALT  2012  1103  680 
HDL  655  692  1326 
Ammonia  569.6  961   
Sodium  136    152 
Potassium  4.2    2.2 
Calcium  8.3    11.3 
Glucose  ****   
Urea  19.26  27.82   
Creatinine  0.58  0.80   
Uric acid     
Arterial blood gases      Ph:6.76 
      PCO2: 43.4 
      HCO3: 6.1 
      BE: -28.2 
      Lact: 28.96 

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