Literature DB >> 12195308

Mesenteric mass in a young girl--an unusual site for Gaucher's disease.

Adrian K P Lim1, Ashok Vellodi, Kieran McHugh.   

Abstract

We report the first case of a child with Gaucher's disease and a large mesenteric mass, confirmed histologically to be Gaucher's cell infiltrates. We describe the radiological findings and discuss further management. The advent of enzyme replacement therapy has prolonged survival and the emergence of previously undocumented manifestations of the disease is being observed. The radiologist and clinician should be alert to the possible development of these new problems and the fact that in Gaucher's disease a palpable right upper-quadrant mass need not necessarily represent hepatomegaly.

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Year:  2002        PMID: 12195308     DOI: 10.1007/s00247-002-0761-0

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN: 0301-0449


  9 in total

Review 1.  Macrophage-related diseases of the gut: a pathologist's perspective.

Authors:  Xavier Sagaert; Thomas Tousseyn; Gert De Hertogh; Karel Geboes
Journal:  Virchows Arch       Date:  2012-05-11       Impact factor: 4.064

2.  Extraosseous Gaucher cell deposition without adjacent bone involvement.

Authors:  Brendan J Meyer; Anne M Mills; Cree M Gaskin
Journal:  Skeletal Radiol       Date:  2014-06-22       Impact factor: 2.199

3.  Large soft-tissue masses in an adult patient with Gaucher disease.

Authors:  Neha Mahajan; Russell Brynes; Shoji Yano
Journal:  J Inherit Metab Dis       Date:  2016-08-09       Impact factor: 4.982

4.  Large Mesenteric Gaucheroma Responds to Substrate Reduction Therapy: A New Management of Gaucheromas.

Authors:  Shoji Yano; Kathryn Moseley; Neha Mahajan; Mikako Warren; Linda Vachon
Journal:  J Pediatr Genet       Date:  2020-07-29

5.  CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.

Authors:  Thomas A Burrow; Ying Sun; Carlos E Prada; Laurie Bailey; Wujuan Zhang; Amanda Brewer; Steve W Wu; Kenneth D R Setchell; David Witte; Mitchell B Cohen; Gregory A Grabowski
Journal:  Mol Genet Metab       Date:  2014-09-02       Impact factor: 4.797

Review 6.  Gaucher disease: new developments in treatment and etiology.

Authors:  Ozgur Harmanci; Yusuf Bayraktar
Journal:  World J Gastroenterol       Date:  2008-07-07       Impact factor: 5.742

7.  Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease.

Authors:  A A Mhanni; M Kozenko; J N Hartley; M Deneau; W El-Matary; C Rockman-Greenberg
Journal:  Mol Genet Metab Rep       Date:  2015-12-29

8.  Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Authors:  Szu-Yin Tseng; Dau-Ming Niu; Tzu-Hung Chu; Yi-Chen Yeh; Man-Hsu Huang; Tsui-Feng Yang; Hsuan-Chieh Liao; Chuan-Chi Chiang; Hui-Chen Ho; Wen-Jue Soong; Chia-Feng Yang
Journal:  Mol Genet Metab Rep       Date:  2019-05-09

9.  Very rare condition of multiple Gaucheroma: A case report and review of the literature.

Authors:  Szu-Yin Tseng; Dau-Ming Niu; Tzu-Hung Chu; Yi-Chen Yeh; Man-Hsu Huang; Tsui-Feng Yang; Hsuan-Chieh Liao; Chuan-Chi Chiang; Hui-Chen Ho; Wen-Jue Soong; Chia-Feng Yang
Journal:  Mol Genet Metab Rep       Date:  2019-07-12
  9 in total

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