Presentation
Full-term newborn with genetically confirmed arterial tortuosity syndrome for MR angiography to rule out associated intracranial vascular abnormality.
Patient Data
- normal appearance of the cerebral hemispheres, corpus callosum, brainstem, and posterior fossa, with preserved gray/white matter differentiation
- no evidence of high signal intensity foci, hemorrhage, infarction, mass, brain edema or midline shift
- normal ventricular system, basal cisterns, Sylvian fissures and convexity sulci
- the visualized parts of the skull bone show small elliptical-shaped right high parietal scalp hematoma; the visualized sinuses are unremarkable
- the visualized neck and cranial arterial system show the tortuous nature of the visualized extra- and intracranial portion of both the carotid and vertebrobasilar arterial system: affected vessels are forming multiple loops and kinks, best appreciated on the 3D MRA sequences
- there is no evidence of arterial narrowing, dissection, irregularity, aneurysm or occlusion
- NB the patient was found to have aortic arch tortuosity (not shown)
IMPRESSION:
Known case of arterial tortuosity syndrome, showing:
- tortuous nature of the visualized extra- and intracranial portion of both the carotid and the vertebrobasilar system
- no evidence of narrowing, irregularity, aneurysm or occlusion
- unremarkable MRI study of the brain
Case Discussion
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder characterized by:
- a) cardiovascular anomalies, including elongation and tortuosity of the large and medium-sized arteries and anomalies of the vascular elastic fibers
- b) extracardiac anomalies, such as skin (stretchable skin), soft tissue abnormalities such as joint laxity, arachnodactyly, and facial features (high arched palate, beaked nose)
Arterial tortuosity syndrome shares similarities with other connective tissue disorders, such as Ehlers-Danlos syndrome, Marfan syndrome, and Loeys-Dietz syndrome. Marked tortuosity of the vessels favors ATS.
the disease can affect the pulmonary arteries and aorta, the coronary arteries, and other arteries, such as mesenteric and peripheral arteries.
Our case demonstrates the affected neck and cranial arteries, forming multiple loops and kinks that can best be appreciated on 3D MRA sequences. These tortuous vessels are prone to aneurysm formation, dissection, and ischemic events
The first few years of life seem to be the most critical period for detecting and diagnosing the extent of the disease.
The role of the radiologist in the workup may include systemic vascular imaging to characterize the extent of disease and to detect potentially life-threatening events, particularly acute respiratory insufficiency due to pulmonary stenosis and other complications related to the regional arterial system.
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