Article Text

Unusual presentation of more common disease/injury
Lymphatic system anomalies in Crouzon syndrome
  1. Pierre Bourgeois1,
  2. Stéphane Moniotte2
  1. 1
    Institute Jules Bordet, Service of Nuclear Medicine, 121, Boulevard De Waterloo, Brussels, B-1000, Belgium
  2. 2
    Cliniques Universitaires Saint-Luc, Department of Pediatrics, Avenue Hippocrate, 10, Brussels, B-1200, Belgium
  1. Pierre Bourgeois, pierre.bourgeois{at}bordet.be

Summary

Crouzon syndrome is a rare genetic disorder characterised mainly by distinctive malformations of the skull and facial region and caused by mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. No study reported on oedemas related to lymphatic system abnormalities in these patients. A case of Crouzon syndrome displaying classic facial anomalies but also with bilateral lower limb oedema is reported in whom lymphoscintigraphic investigation of the limbs clearly delineated the presence of lymphatic system anomalies.

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Footnotes

  • Competing interests: None.

  • Patient consent: Patient/guardian consent was obtained for publication.

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