Title |
IMPORTÂNCIA DA BIÓPSIA HEPÁTICA NO DIAGNÓSTICO DA DEFICIÊNCIA DE LIPASE ÁCIDA LISOSSOMAL: RELATO DE CASO
|
---|---|
Published in |
Revista Paulista de Pediatria, October 2017
|
DOI | 10.1590/1984-0462/;2018;36;1;00016 |
Pubmed ID | |
Authors |
Adriana Maria Alves De Tommaso, Flávia Fonseca de Carvalho Barra, Gabriel Hessel, Carolina Araújo Moreno, Roberto Giugliani, Cecília Amélia Fazzio Escanhoela |
Abstract |
To describe a case of cholesteryl ester storage disease (CESD) and discuss the importance of liver biopsy for diagnosis. 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. 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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 1 | 100% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Scientists | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 8 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 2 | 25% |
Researcher | 2 | 25% |
Unknown | 4 | 50% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 3 | 38% |
Immunology and Microbiology | 1 | 13% |
Unknown | 4 | 50% |