Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2019 Dec 5;12(12):e232660.
doi: 10.1136/bcr-2019-232660.

Portal hypertension: not a common Niemann

Vinaya Gopalaswamy  1 , Sharath P Madhyastha  2 , Raviraja Acharya  3 , Chethan Manohar  4
Affiliations
Case Reports

Portal hypertension: not a common Niemann

Vinaya Gopalaswamy et al. BMJ Case Rep. .
No abstract available

Keywords: cirrhosis; endoscopy; genetics; haematology (incl blood transfusion); portal hypertension.

PubMed Disclaimer

Conflict of interest statement

Competing interests: None declared.

Figures

Figure 1
Figure 1
Upper GI endoscopy showing grade II varices in the oesophagus.
Figure 2
Figure 2
Bone marrow aspiration (200×) showing cluster of macrophages with finely vacuolated cytoplasm (foamy macrophages) suggestive of Niemann-Pick’s cells (arrows).
Figure 3
Figure 3
Bone marrow aspiration (400×).
See this image and copyright information in PMC

References

    1. Schuchman EH. The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease. J Inherit Metab Dis 2007;30:654–63. 10.1007/s10545-007-0632-9 - DOI - PubMed
    1. Thurberg BL, Wasserstein MP, Schiano T, et al. . Liver and skin histopathology in adults with acid sphingomyelinase deficiency (Niemann-Pick disease type B). Am J Surg Pathol 2012;36:1234–46. 10.1097/PAS.0b013e31825793ff - DOI - PMC - PubMed
    1. Labrune P, Bedossa P, Huguet P, et al. . Fatal liver failure in two children with Niemann-Pick disease type B. J Pediatr Gastroenterol Nutr 1991;13:104–9. 10.1097/00005176-199107000-00020 - DOI - PubMed
    1. Wasserstein MP, Desnick RJ, Schuchman EH, et al. . The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004;114:e672–7. 10.1542/peds.2004-0887 - DOI - PubMed
    1. Moles A, Tarrats N, Fernández-Checa JC, et al. . Cathepsin B overexpression due to acid sphingomyelinase ablation promotes liver fibrosis in Niemann-Pick disease. J Biol Chem 2012;287:1178–88. 10.1074/jbc.M111.272393 - DOI - PMC - PubMed

Publication types

LinkOut - more resources