IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT

OBJECTIVE: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. CASE DESCRIPTION: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultras...

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Autores principales: Tommaso, Adriana Maria Alves De, Barra, Flávia Fonseca de Carvalho, Hessel, Gabriel, Moreno, Carolina Araújo, Giugliani, Roberto, Escanhoela, Cecília Amélia Fazzio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade de Pediatria de São Paulo 2017
Materias:
Relatos de Caso
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849380/
https://www.ncbi.nlm.nih.gov/pubmed/29091130
http://dx.doi.org/10.1590/1984-0462/;2018;36;1;00016
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author Tommaso, Adriana Maria Alves De
Barra, Flávia Fonseca de Carvalho
Hessel, Gabriel
Moreno, Carolina Araújo
Giugliani, Roberto
Escanhoela, Cecília Amélia Fazzio
author_facet Tommaso, Adriana Maria Alves De
Barra, Flávia Fonseca de Carvalho
Hessel, Gabriel
Moreno, Carolina Araújo
Giugliani, Roberto
Escanhoela, Cecília Amélia Fazzio
author_sort Tommaso, Adriana Maria Alves De
collection PubMed
description OBJECTIVE: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. CASE DESCRIPTION: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultrasound demonstrated hepatomegaly and hepatic steatosis. Laboratory tests showed elevated liver serum enzymes and dyslipidemia. Liver biopsy was consistent with CESD. COMMENTS: Although measuring enzyme activity is the gold standard for CESD diagnosis, liver biopsy is very helpful when investigating suspected cases of CESD, particularly upon other differential diagnoses to be considered.
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spelling pubmed-58493802018-03-16 IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT Tommaso, Adriana Maria Alves De Barra, Flávia Fonseca de Carvalho Hessel, Gabriel Moreno, Carolina Araújo Giugliani, Roberto Escanhoela, Cecília Amélia Fazzio Rev Paul Pediatr Relatos de Caso OBJECTIVE: To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. CASE DESCRIPTION: A female patient, aged two years and ten months, presented with an increased abdominal volume following hepatomegaly for four months. Abdominal ultrasound demonstrated hepatomegaly and hepatic steatosis. Laboratory tests showed elevated liver serum enzymes and dyslipidemia. Liver biopsy was consistent with CESD. COMMENTS: Although measuring enzyme activity is the gold standard for CESD diagnosis, liver biopsy is very helpful when investigating suspected cases of CESD, particularly upon other differential diagnoses to be considered. Sociedade de Pediatria de São Paulo 2017-10-30 2018 /pmc/articles/PMC5849380/ /pubmed/29091130 http://dx.doi.org/10.1590/1984-0462/;2018;36;1;00016 Text en https://creativecommons.org/licenses/by/4.0/ Este é um artigo publicado em acesso aberto sob uma licença Creative Commons
spellingShingle Relatos de Caso
Tommaso, Adriana Maria Alves De
Barra, Flávia Fonseca de Carvalho
Hessel, Gabriel
Moreno, Carolina Araújo
Giugliani, Roberto
Escanhoela, Cecília Amélia Fazzio
IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title_full IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title_fullStr IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title_full_unstemmed IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title_short IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT
title_sort importance of liver biopsy in the diagnosis of lysosomal acid lipase deficiency: a case report
topic Relatos de Caso
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5849380/
https://www.ncbi.nlm.nih.gov/pubmed/29091130
http://dx.doi.org/10.1590/1984-0462/;2018;36;1;00016
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