Lymphatic system anomalies in Crouzon syndrome

Abstract

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.

Figure 1

Lymphoscintigraphic investigation of our subject: from left to the right, whole body imaging in anterior views (from the feet, bottom, to the head, top) obtained after 30 min of no movement of feet and toes (A), after 5 min of tiptoeing (B) and after 1 h of walking (C).