Euroasian journal of hepato-gastroenterology

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VOLUME 11 , ISSUE 2 ( July-December, 2021 ) > List of Articles


Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!

Meranthi Fernando, Suresh Vijay, Saikat Santra, Mary A Preece, Rachel Brown, Astor Rodrigues, Girish L Gupte

Keywords : Child, HHH syndrome, Liver disease, Liver transplant, Wilson's disease

Citation Information : Fernando M, Vijay S, Santra S, Preece MA, Brown R, Rodrigues A, Gupte GL. Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!. Euroasian J Hepatogastroenterol 2021; 11 (2):100-102.

DOI: 10.5005/jp-journals-10018-1351

License: CC BY-NC 4.0

Published Online: 22-10-2021

Copyright Statement:  Copyright © 2021; The Author(s).


Background: Wilson's disease (WD) is a rare disorder of copper toxicosis. Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is even rarer. The coexistence of these two disorders and their clinical implications are not yet reported. We report on a child who succumbed to death due to liver disease caused by both disorders, documenting their disease-causing mutations and highlighting the lessons learnt out of this case. Case description: A child who was diagnosed to have WD soon after birth due to known parental heterozygosity was later found to have developmental delay, seizures, and hyperammonemia. Subsequent evaluation confirmed hyperornithinemia-hyperammonamia-homocitrullinuria (HHH) syndrome as a comorbidity. Though this child was commenced on medical treatment for both the metabolic diseases since early life, his liver disease was rapidly progressive requiring a liver transplant (LTx) at 6-years. He died in the posttransplant period possibly due to sepsis and hidden metabolic consequences. Conclusion: This case highlights that co-occurrence of WD and HHH syndrome would cause progressive liver disease despite medical treatment. Hence, the close clinical follow-up and early LTx would be warranted.

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