1. Differential Diagnosis of a Patient with Lysosomal Acid Lipase Deficiency: A Case Report.
- Author
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Akki, Ashwin S, Chung, Sun M, Rudolph, Bryan J, and Ewart, Michelle R
- Subjects
LYSOSOMAL storage diseases ,ABDOMEN ,AMINOTRANSFERASES ,ASTHMA ,BIOLOGICAL assay ,BIOPSY ,DIFFERENTIAL diagnosis ,DNA ,FATTY liver ,GENES ,GLYCOGEN ,HEPATOTOXICOLOGY ,LEUCOCYTES ,LIPIDS ,LIVER ,LIVER cells ,ULTRASONIC imaging ,ROUTINE diagnostic tests ,SEQUENCE analysis ,DIAGNOSIS - Abstract
Background We describe the differential diagnosis of an obese 12-year-old boy of Mexican origin who presented with a 6-year history of abnormal lipid profile and elevated liver transaminase levels. Methods The patient underwent routine clinical testing, an abdominal ultrasound and, ultimately, a liver biopsy. Based on the histologic findings, a serum leukocyte lysosomal acid lipase (LAL) assay and DNA sequencing of the lipase A (LIPA) gene were performed. Results Liver biopsy revealed diffuse microvesicular steatosis with clusters of foamy histiocytes in the lobules and portal areas. Our differential diagnosis included nonalcoholic fatty liver disease; medication-induced hepatotoxicity; glycogenic hepatopathy; medium-chain acyl coenzyme A dehydrogenase or long-chain acyl coenzyme A dehydrogenase deficiency; and lysosomal storage disorders, including Niemann-Pick disease and lysosomal acid lipase deficiency (LAL-D). Serum LAL activity was absent, and DNA sequencing confirmed homozygous mutation in LIPA. Conclusions Although it occurs rarely, LAL-D should be considered in the differential diagnosis of microvesicular steatosis for a timely diagnosis. [ABSTRACT FROM AUTHOR]
- Published
- 2018
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