ArticleJPGN reports2023
Liver Biopsy Leads to Serendipitous Diagnosis of Glycogen Storage Disease Type IX in a Patient With Fontan-Associated Liver Disease.
Article in JPGN reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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4 authors at 2 institutions in 1 country.
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Abstract
Fontan-associated liver disease (FALD) is a form of congestive hepatopathy resulting from Fontan palliation procedures in patients with single ventricle physiology. Although there is variation between pediatric centers, the surveillance for FALD may include liver biopsies for assessment of degree of fibrosis. Our report describes a 7-year-old girl with hypoplastic left heart syndrome who underwent Fontan palliation at age 2, and presented with disproportionate hepatomegaly, elevated liver enzymes, and increased stiffness on liver elastography. Liver biopsy showed diffuse hepatocellular cytoplasmic glycogenation, leading to the diagnosis of glycogen storage disease IX. This case demonstrates the importance of investigating unexpected physical exam findings and the potential for serendipitous benefit of liver biopsy in FALD.
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