Pediatric Radiology

, Volume 39, Issue 9, pp 1015–1015

Loeys-Dietz syndrome

Clinical Image

DOI: 10.1007/s00247-009-1252-3

Cite this article as:
Malhotra, A. & Westesson, PL. Pediatr Radiol (2009) 39: 1015. doi:10.1007/s00247-009-1252-3
A 3-month-old boy presented with respiratory tract infection and was found to have a posterior mediastinal mass on chest radiography. CT of the chest (Fig. 1) showed an aortic dissection in the descending thoracic aorta causing a pseudoaneurysm measuring approximately 4×4 cm. The child had a family history of intracranial aneurysms. MR angiography of the head (Fig. 2) showed elongated, tortuous intracranial vessels. The child also had a bifid uvula. The thoracic pseudoaneurysm was repaired with an end-to-end anastomosis.
Fig. 1

Chest CT image
Fig. 2

MR angiogram of the head

Loeys-Dietz syndrome (LDS) is an autosomal dominant syndrome caused by mutations in genes encoding transforming growth factor beta receptor (TGFBR1 or TGFBR2) [1]. Marfan and Ehlers-Danlos syndromes share many features, including aortic and arterial aneurysms/dissections with pronounced tortuosity (corkscrew structure) of arteries [2]. It is important to distinguish among them because vascular surgery has a better prognosis in children with LDS. Cleft palate or bifid uvula and orbital hypertelorism are helpful distinguishing features seen in LDS.

Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  1. 1.Department of Radiology, Division of NeuroradiologyUniversity of Rochester Medical CenterRochesterUSA