Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Alja Kavčič; Matjaž Homan; Milanka Živanović; Maruša Debeljak; Tita Butenko; Ana Drole Torkar; Mojca Žerjav Tanšek; Sara Bertok; Tadej Battelino; Urh Groselj

doi:10.12659/AJCR.937220

05 November 2022 : Case report Slovenia

Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

Challenging differential diagnosis, Rare disease

Alja Kavčič^1AEF*, Matjaž Homan^2E, Milanka Živanović^3E, Maruša Debeljak^4DE, Tita Butenko^5E, Ana Drole Torkar^6E, Mojca Žerjav Tanšek^6E, Sara Bertok^6E, Tadej Battelino^6E, Urh Groselj

^6ABDEFG

DOI: 10.12659/AJCR.937220

Am J Case Rep 2022; 23:e937220

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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.

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Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A

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