Cargando…

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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Fernando, Meranthi, Vijay, Suresh, Santra, Saikat, Preece, Mary A, Brown, Rachel, Rodrigues, Astor, Gupte, Girish L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Jaypee Brothers Medical Publishers 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566159/
https://www.ncbi.nlm.nih.gov/pubmed/34786365
http://dx.doi.org/10.5005/jp-journals-10018-1351
_version_ 1784593957339004928
author Fernando, Meranthi
Vijay, Suresh
Santra, Saikat
Preece, Mary A
Brown, Rachel
Rodrigues, Astor
Gupte, Girish L
author_facet Fernando, Meranthi
Vijay, Suresh
Santra, Saikat
Preece, Mary A
Brown, Rachel
Rodrigues, Astor
Gupte, Girish L
author_sort Fernando, Meranthi
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8566159
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher Jaypee Brothers Medical Publishers
record_format MEDLINE/PubMed
spelling pubmed-85661592021-11-15 Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned! Fernando, Meranthi Vijay, Suresh Santra, Saikat Preece, Mary A Brown, Rachel Rodrigues, Astor Gupte, Girish L Euroasian J Hepatogastroenterol Case Report 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. Jaypee Brothers Medical Publishers 2021 /pmc/articles/PMC8566159/ /pubmed/34786365 http://dx.doi.org/10.5005/jp-journals-10018-1351 Text en Copyright © 2021; Jaypee Brothers Medical Publishers (P) Ltd. https://creativecommons.org/licenses/by-nc/4.0/© The Author(s). 2021 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (https://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted use, distribution, and non-commercial reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated.
spellingShingle Case Report
Fernando, Meranthi
Vijay, Suresh
Santra, Saikat
Preece, Mary A
Brown, Rachel
Rodrigues, Astor
Gupte, Girish L
Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title_full Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title_fullStr Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title_full_unstemmed Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title_short Wilson's Disease and Hyperornithinemia-hyperammonemia-homocitrullinuria Syndrome in a Child: A Case Report with Lessons Learned!
title_sort wilson's disease and hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in a child: a case report with lessons learned!
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566159/
https://www.ncbi.nlm.nih.gov/pubmed/34786365
http://dx.doi.org/10.5005/jp-journals-10018-1351
work_keys_str_mv AT fernandomeranthi wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT vijaysuresh wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT santrasaikat wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT preecemarya wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT brownrachel wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT rodriguesastor wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned
AT guptegirishl wilsonsdiseaseandhyperornithinemiahyperammonemiahomocitrullinuriasyndromeinachildacasereportwithlessonslearned