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Hypobêtalipoprotéinémie: aspect endoscopique - intérêt diagnostique

The diagnostic value of endoscopy in hypobetalipoproteinemia

  • Case report
  • Published:
Acta Endoscopica

RÉsumÉ

Les auteurs rapportent une observation d’hypobêtalipoprotéinémie homozygote caractérisée par un tableau clinique de stéatorrhée et une absence d’apolipoprotéine B. L’æsogastro-duodénoscopie permet de retrouver un aspect jaunâtre, neigeux d’infiltration graisseuse qui oriente le diagnostic. Les biopsies pratiquées dans le même temps permettent les études histologiques en microscopie optique, électronique et en immunofluorescence qui confirmeront le diagnostic.

Summary

The authors report a case of homozygote hypobetalipoproteinemia presenting with steatorrhea and an absence of apolipoprotein B. Esogastroduodenoscopy shows a whitish snowlike appearance of fatty infiltration which orients the diagnosis. Biopsies taken during endoscopy undergo histological study using light and electron microscopy as well as immunofluorescence which confirms the diagnosis.

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Authors and Affiliations

  1. Service de Médecine Interne A, Hôpital Saint-Nicolas, 2 Rue d’Anthouard, B.P. 713, F-55107, Verdun Cedex, France

    G. Gay, J. F. Roche, P. Merlin & J. GrÉGoire

Authors
  1. G. Gay
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  2. J. F. Roche
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  3. P. Merlin
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  4. J. GrÉGoire
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Gay, G., Roche, J.F., Merlin, P. et al. Hypobêtalipoprotéinémie: aspect endoscopique - intérêt diagnostique. Acta Endosc 17, 79–84 (1987). https://doi.org/10.1007/BF02965389

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  • DOI: https://doi.org/10.1007/BF02965389

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