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Title: | Wilson's disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a child: A case report with lessons learned! |
Authors: | Fernando, M. Vijay, S. Santra, S. Preece, M.A. Brown, R. Rodrigues, A. Gupte, G.L. |
Keywords: | Child HHH syndrome Liver Diseases |
Issue Date: | 2021 |
Publisher: | Jaypee Brothers Medical Publishers, Mumbai |
Citation: | Euroasian Journal of Hepato-Gastroenterology. 2021; 11(2): 100-102. |
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. |
Description: | Not indexed for MEDLINE. |
URI: | http://repository.kln.ac.lk/handle/123456789/23972 |
ISSN: | 2231-5047 |
Appears in Collections: | Journal/Magazine Articles |
Files in This Item:
File | Description | Size | Format | |
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ejohg-11-100.pdf | 512.64 kB | Adobe PDF | View/Open |
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