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: Articles

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

Challenging differential diagnosis, Rare disease

Alja 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

DOI: 10.12659/AJCR.937220

Am J Case Rep 2022; 23:e937220

Authors information Article notes Copyright and License information

Background Case Report Discussion Conclusions References:

View HTML version

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.

Back to the Article

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

Your Privacy