Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance

We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia.

Detalles Bibliográficos
Autores principales: Paolella, Giulia, Pisano, Pasquale, Albano, Raffaele, Cannaviello, Lucio, Mauro, Carolina, Esposito, Gabriella, Vajro, Pietro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502262/
https://www.ncbi.nlm.nih.gov/pubmed/23114028
http://dx.doi.org/10.1186/1824-7288-38-64
_version_ 1782250299425030144
author Paolella, Giulia
Pisano, Pasquale
Albano, Raffaele
Cannaviello, Lucio
Mauro, Carolina
Esposito, Gabriella
Vajro, Pietro
author_facet Paolella, Giulia
Pisano, Pasquale
Albano, Raffaele
Cannaviello, Lucio
Mauro, Carolina
Esposito, Gabriella
Vajro, Pietro
author_sort Paolella, Giulia
collection PubMed
description We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia.
format Online
Article
Text
id pubmed-3502262
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-35022622012-11-21 Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance Paolella, Giulia Pisano, Pasquale Albano, Raffaele Cannaviello, Lucio Mauro, Carolina Esposito, Gabriella Vajro, Pietro Ital J Pediatr Case Report We report a case with the association of well self-compensated hereditary fructose intolerance and still poorly symptomatic Duchenne type muscular dystrophy. This case illustrates the problems of a correct diagnosis in sub-clinical patients presenting with “cryptogenic” hypertransaminasemia. BioMed Central 2012-10-31 /pmc/articles/PMC3502262/ /pubmed/23114028 http://dx.doi.org/10.1186/1824-7288-38-64 Text en Copyright ©2012 Paolella et al.; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Paolella, Giulia
Pisano, Pasquale
Albano, Raffaele
Cannaviello, Lucio
Mauro, Carolina
Esposito, Gabriella
Vajro, Pietro
Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title_full Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title_fullStr Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title_full_unstemmed Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title_short Fatty liver disease and hypertransaminasemia hiding the association of clinically silent Duchenne muscular dystrophy and hereditary fructose intolerance
title_sort fatty liver disease and hypertransaminasemia hiding the association of clinically silent duchenne muscular dystrophy and hereditary fructose intolerance
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3502262/
https://www.ncbi.nlm.nih.gov/pubmed/23114028
http://dx.doi.org/10.1186/1824-7288-38-64
work_keys_str_mv AT paolellagiulia fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT pisanopasquale fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT albanoraffaele fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT cannaviellolucio fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT maurocarolina fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT espositogabriella fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance
AT vajropietro fattyliverdiseaseandhypertransaminasemiahidingtheassociationofclinicallysilentduchennemusculardystrophyandhereditaryfructoseintolerance

Ejemplares similares