Literature DB >> 2200110

[Ultrasound echogenic splenic tumors: nodular manifestation of type C Niemann-Pick disease].

E Fröhlich1, K Harzer, T Heller, U Rühl.   

Abstract

A female patient is described with highly echogenic splenic nodes found in routine diagnosis. After CT and angiography a splenectomy was carried out. The histological finding of sea blue histiocytes and the extended family history suggested a subtype of Niemann-Pick disease. Biochemical lipid analysis of the spleen confirmed Type-C Niemann-Pick disease. Niemann-Pick disease and its subtypes are discussed briefly.

Entities:  

Mesh：

Year:  1990        PMID： 2200110     DOI： 10.1055/s-2007-1011543

Source DB:  PubMed          Journal:  Ultraschall Med        ISSN： 0172-4614            Impact factor:   6.548


  5 in total

1.  Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop.

Authors:  G Millat; C Marçais; C Tomasetto; K Chikh; A H Fensom; K Harzer; D A Wenger; K Ohno; M T Vanier
Journal:  Am J Hum Genet       Date:  2001-05-01       Impact factor: 11.025

Review 2.  Niemann-Pick disease type C.

Authors:  Marie T Vanier
Journal:  Orphanet J Rare Dis       Date:  2010-06-03       Impact factor: 4.123

3.  Contrast-enhanced ultrasonography in nodular splenomegaly associated with type B Niemann-Pick disease: an atypical hemangioma enhancement pattern.

Authors:  E Benedetti; A Proietti; P Miccoli; F Basolo; E Ciancia; P A Erba; S Galimberti; E Orsitto; M Petrini
Journal:  J Ultrasound       Date:  2009-07-09

4.  Niemann-Pick disease type C: nodular splenomegaly.

Authors:  L P Omarini; S E Frank-Burkhardt; T A Seemayer; G Mentha; F Terrier
Journal:  Abdom Imaging       Date:  1995 Mar-Apr

5.  High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets.

Authors:  Christopher A Wassif; Joanna L Cross; James Iben; Luis Sanchez-Pulido; Antony Cougnoux; Frances M Platt; Daniel S Ory; Chris P Ponting; Joan E Bailey-Wilson; Leslie G Biesecker; Forbes D Porter
Journal:  Genet Med       Date:  2015-03-12       Impact factor: 8.822
  5 in total

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