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

doi:10.5005/jp-journals-10018-1351

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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

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Abstract

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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