• Interv Neuroradiol · Mar 2011

    Case Reports

    Imaging and clinical features in a child with Loeys-Dietz syndrome. A case report.

    • B Suarez, A Caldera, and M Castillo.
    • Department of Neuroradiology, University of North Carolina, Chapel Hill, North Carolina 27599-7510, USA. Barbara.Alejandra.Suarez.Arfenoni2@sergas.es
    • Interv Neuroradiol. 2011 Mar 1;17(1):9-11.

    AbstractWe describe a boy with Loeys-Dietz syndrome (LDS) a genetic and recently described condition that affects connective tissues belonging to a group of Marfan-related disorders. Since there are only a few cases reported misdiagnosis may not be uncommon. Radiological findings in our patient include pectus excavatum, aortic root dilatation, diffuse dilatation of the intracerebral vessels and a Chiari I malformation. We describe the imaging findings, clinical presentation and diagnosis criteria of this entity.

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