05 November 2022>: Articles
Compound Heterozygote Mutation in the Gene Leading to Nieman-Pick Disease Type A
Challenging differential diagnosis, Rare diseaseAlja Kavčič A , Matjaž Homan E , Milanka Živanović E , Maruša Debeljak D , Tita Butenko E , Ana Drole Torkar E , Mojca Žerjav Tanšek E , Sara Bertok E , Tadej Battelino E , Urh Groselj A
Am J Case Rep 2022; 23:e937220
Figure 1. (A) Liver biopsy showing clusters of enlarged histyocites with foamy cytoplasm (Niemann-Pick cells) both in hepatic lobules and portal tracts. (B) Electron micrograph showing concentric myelin-like inclusions and laminated zebra bodies in Kupffer cells.