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

Revista paulista de pediatria : orgão oficial da Sociedade de Pediatria de São Paulo
Adriana Maria Alves De TommasoCecília 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.

References

Mar 8, 2012·Journal of Pediatric Gastroenterology and Nutrition·Pietro VajroValerio Nobili
Jun 14, 2012·Advances in Anatomic Pathology·Nadia OvchinskyJoel E Lavine
Feb 14, 2013·Journal of Pediatric Gastroenterology and Nutrition·Bingnan Zhang, Anthony F Porto
Feb 21, 2013·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Stuart A ScottRobert J Desnick
Oct 15, 2013·Zeitschrift für Gastroenterologie·F FreudenbergS Koletzko

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Methods Mentioned

BETA
biopsy
periodic acid Schiff

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