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|Year : 2016 | Volume
| Issue : 5 | Page : 1087-1088
Marinos Kontzialis1, Gokhan Kuyumcu1, Carlos A Zamora2
1 Department of Diagnostic Radiology, Division of Neuroradiology, Rush University Medical Center, Chicago, IL, USA
2 Division of Neuroradiology, University of North Carolina School of Medicine, Chapel Hill, North Carolina, USA
|Date of Web Publication||12-Sep-2016|
Department of Diagnostic Radiology, Division of Neuroradiology, Rush University Medical Center, 1653 W Congress Parkway, Chicago, IL 60612
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Kontzialis M, Kuyumcu G, Zamora CA. Loeys–Dietz syndrome. Neurol India 2016;64:1087-8
The characteristic triad of Loeys–Dietz syndrome includes arterial tortuosity, aneurysms, hypertelorism, and bifid uvula and cleft palate. Typical vascular neuroradiologic manifestations are arterial tortuosity [Figure 1] (which is uniformly present), extra- and intra-cranial aneurysms, and a relatively high rate of arterial dissections. The suspected diagnosis is confirmed by genetic testing with heterozygous mutations identified in the genes encoding transforming growth factor-B receptors 1 or 2. The patients require serial follow-up scans to monitor for the development of extra- and intra-cranial dissections and aneurysms. Beta-blockers are used to reduce the hemodynamic stress, and angiotensin receptor antagonists may offer long-term benefit. Intracranial aneurysms have an increased risk of rupture and early surgical intervention is favored; endovascular treatment may be considered in selected patients. Dissections in the carotid and vertebrobasilar systems require evaluation by neurointerventional specialists, and chronic aspirin may be indicated.
|Figure 1: Computed tomography and magnetic resonance angiography findings in Loeys–Dietz syndrome. A 34-year-old patient with confirmed Loeys–Dietz syndrome. Computed tomography angiography three-dimensional reconstruction (a) shows extreme tortuosity of the cervical internal carotid arteries (arrowhead) and right internal carotid artery at the skull base (arrow). Magnetic resonance angiography maximum intensity projection (b) shows additional mild fusiform dilatation of the proximal basilar artery (arrowhead) and right internal carotid artery terminus (arrow)|
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