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

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.

How to cite this article: Fernando M, Vijay S, Santra S, et al. Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned! Euroasian J Hepato-Gastroenterol 2021;11(2):100-102.