Wilson’s Disease: Expect the Unexpected

A 64-year-old woman, presented with abdominal distention, jaundice and resting tremor, was found to have liver injury and abnormal liver enzymes. A computed tomography (CT) scan of the abdomen and pelvis showed abdominopelvic ascites and signs of liver cirrhosis. An extensive liver disease workup wa...

Descripción completa

Detalles Bibliográficos
Autores principales: El Imad, Talal, Al Moussawi, Hassan, Haddad, Fady G., Felix, Richard, Mulrooney, Stephen M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2018
Materias:
Gastroenterology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889150/
https://www.ncbi.nlm.nih.gov/pubmed/29644160
http://dx.doi.org/10.7759/cureus.2173
_version_ 1783312650065674240
author El Imad, Talal
Al Moussawi, Hassan
Haddad, Fady G.
Felix, Richard
Mulrooney, Stephen M
author_facet El Imad, Talal
Al Moussawi, Hassan
Haddad, Fady G.
Felix, Richard
Mulrooney, Stephen M
author_sort El Imad, Talal
collection PubMed
description A 64-year-old woman, presented with abdominal distention, jaundice and resting tremor, was found to have liver injury and abnormal liver enzymes. A computed tomography (CT) scan of the abdomen and pelvis showed abdominopelvic ascites and signs of liver cirrhosis. An extensive liver disease workup was performed and came back negative; therefore, a liver biopsy was obtained and showed evidence of cirrhosis with elevated liver copper consistent with Wilson’s disease (WD). We report a unique case of late-onset WD in which the ceruloplasmin level and 24-h urinary copper excretion were all normal.
format Online
Article
Text
id pubmed-5889150
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Cureus
record_format MEDLINE/PubMed
spelling pubmed-58891502018-04-11 Wilson’s Disease: Expect the Unexpected El Imad, Talal Al Moussawi, Hassan Haddad, Fady G. Felix, Richard Mulrooney, Stephen M Cureus Gastroenterology A 64-year-old woman, presented with abdominal distention, jaundice and resting tremor, was found to have liver injury and abnormal liver enzymes. A computed tomography (CT) scan of the abdomen and pelvis showed abdominopelvic ascites and signs of liver cirrhosis. An extensive liver disease workup was performed and came back negative; therefore, a liver biopsy was obtained and showed evidence of cirrhosis with elevated liver copper consistent with Wilson’s disease (WD). We report a unique case of late-onset WD in which the ceruloplasmin level and 24-h urinary copper excretion were all normal. Cureus 2018-02-08 /pmc/articles/PMC5889150/ /pubmed/29644160 http://dx.doi.org/10.7759/cureus.2173 Text en Copyright © 2018, El Imad et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Gastroenterology
El Imad, Talal
Al Moussawi, Hassan
Haddad, Fady G.
Felix, Richard
Mulrooney, Stephen M
Wilson’s Disease: Expect the Unexpected
title Wilson’s Disease: Expect the Unexpected
title_full Wilson’s Disease: Expect the Unexpected
title_fullStr Wilson’s Disease: Expect the Unexpected
title_full_unstemmed Wilson’s Disease: Expect the Unexpected
title_short Wilson’s Disease: Expect the Unexpected
title_sort wilson’s disease: expect the unexpected
topic Gastroenterology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5889150/
https://www.ncbi.nlm.nih.gov/pubmed/29644160
http://dx.doi.org/10.7759/cureus.2173
work_keys_str_mv AT elimadtalal wilsonsdiseaseexpecttheunexpected
AT almoussawihassan wilsonsdiseaseexpecttheunexpected
AT haddadfadyg wilsonsdiseaseexpecttheunexpected
AT felixrichard wilsonsdiseaseexpecttheunexpected
AT mulrooneystephenm wilsonsdiseaseexpecttheunexpected

Ejemplares similares