Hereditary tyrosinemia presenting as hepatocellular carcinoma in a young infant

Authors

  • Suchitra Sivadas Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India
  • Praveena Bhaskaran Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India
  • Jayakuma Chandrasekhara Panicker Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India
  • Rajsekar Chandrasekharan Department of Radiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India
  • Chandan Bajad Department of Pathology, Amrita Institute of Medical Sciences, Kochi, Kerala, India
  • Anjali Ajith Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20212059

Keywords:

Tyrosinemia, Infant, Hepatocellular carcinoma

Abstract

Hereditary tyrosinemia type 1 is an inborn error of metabolism that affects numerous organs, particularly liver, kidneys and peripheral nerves. It usually presents in infants less than six months of age with features of liver failure, hepatoblastoma or hepatocellular carcinoma. Diagnosis is by a combination of clinical, biochemical and imaging features. We report here the case of a four months old infant presenting with massive hepatosplenomegaly and coagulopathy. He was detected to have hepatocellular carcinoma secondary to tyrosinemia and initiated on treatment. This report highlights the importance of considering tyrosinemia in the differential diagnosis of infants presenting with hepatic disease. Early diagnosis is important due to the presence of effective treatment and for prenatal diagnosis in subsequent pregnancies.

Author Biographies

Suchitra Sivadas, Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Assistant professor

Department of Pediatrics

Praveena Bhaskaran, Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Assistant professor

Department of Pediatrics

Jayakuma Chandrasekhara Panicker, Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Professor

Department of Pediatrics

Rajsekar Chandrasekharan, Department of Radiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Assistant professor

Department of Radiology

Chandan Bajad, Department of Pathology, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Post doctoral fellow

Department of Pathology

Anjali Ajith, Department of Pediatrics, Amrita Institute of Medical Sciences, Kochi, Kerala, India

Resident

Department of Pediatrics

References

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Published

2021-05-25

Issue

Section

Case Reports