Neuroradiologic manifestations of Loeys-Dietz syndrome type 1

Abstract

Background and purpose: Loeys-Dietz syndrome (LDS) is a recently described entity that has the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Its neuroradiologic manifestations have not been well delineated. We sought to describe the neuroradiologic features of LDS and to assess the manifestations that would warrant follow-up imaging.

Materials and methods: Two neuroradiologists retrospectively reviewed CT angiography (CTA), MR imaging, and plain film studies related to the head and neck in 25 patients ranging from 1 to 55 years of age, all of whom had positive genetic testing and clinical characteristics of LDS. Arterial tortuosity was evaluated by subjective assessment of 2D and 3D volumetric CTA and MR angiography data. Craniosynostosis and spinal manifestations were assessed by using plain films and CT images. MR images mostly of the head were reviewed for associated findings such as hydrocephalus, Chiari malformation, etc. Clinical manifestations were collated from the electronic patient record.

Results: All patients had extreme arterial tortuosity, which is characteristic of this syndrome. Thirteen patients had scoliosis, 12 had craniosynostosis, 8 had intracranial aneurysms, 6 had spinal instability, 3 had dissections of the carotid and vertebrobasilar arteries, 3 had hydrocephalus, 4 had dural ectasia, 2 had a Chiari malformation, and 1 had intracranial hemorrhage as a complication of vascular dissection.

Conclusions: Significant neuroradiologic manifestations are associated with LDS, predominantly arterial tortuosity. Most of the patients in this series were young and, therefore, may require serial CTA monitoring for development of intra- and extracranial dissections and aneurysms, on the basis of the fact that most of the patients with pseudoaneurysms and dissection were older at the time of imaging. Other findings of LDS such as craniosynostosis, Chiari malformation, and spinal instability may also need to be addressed.

Fig 1.

A 41-year-old woman with a family history of aneurysms and positive genetic testing for LDS type 1 had tortuous bilateral ICAs and a fusiform 8-mm aneurysm distal to the right ICA (arrow).

Fig 2.

A 41-year-old man and his son had positive genetic testing for LDS type 1 after he had intracranial hemorrhage as a complication of dissection and some connective tissue features of LDS. Focal vertebral artery dissection is demonstrated on sagittal (A, arrow) and axial (B) views.

Fig 3.

An 8-year-old genetically confirmed patient with significant arterial tortuosity is demonstrated in carotid (A) and supra-aortic branches (B).

Fig 4.

A 29-year-old male patient with positive genetic testing and dural ectasia noted on CT of the abdomen and pelvis and other connective tissue manifestations like bilateral shoulder.

Fig 5.

An 11-year-old girl with positive genetic testing and other connective tissue manifestations demonstrates spine instability at both C1 and C2 (note atlantoaxial distance variation) and at C2 through C3 with flexion (A) and extension (B) views.