Vascular Ehlers-Danlos syndrome presenting in the ICU as aneurysmal subarachnoid haemorrhage

Abstract

Vascular Ehlers-Danlos syndrome is caused by mutations of COL3A1 gene coding for type III collagen. The main clinical features involve a propensity to arterial tears leading to several life-threatening conditions and intensive care unit admission. We, herein, report the case of a 34-year-old woman presenting with an aneurysmal subarachnoid haemorrhage. Endovascular coil treatment was attempted; however, the procedure was complicated by dissection of the left iliac artery and abdominal aorta. Hospital management was marked by a series of vascular and haemorrhagic complications. These events, together with some distinctive physical features and medical history, raised the suspicion of vascular type of Ehlers-Danlos syndrome. Neurological evolution was not favourable, and the patient evolved to brain death. Genetic testing was available postmortem and identified a mutation in the COL3A1 gene. This case illustrates the importance of medical history and clinical suspicion for diagnosis, which often goes unnoticed until major complications occur.

Keywords: connective tissue disease; genetics; intensive care; interventional radiology; neurosurgery.

Figure 1

Head-CT showing subarachnoid haemorrhage with tetraventricular bleeding and an aneurysm of the anterior communicating artery on CT-angiogram (arrow) with 3D reconstruction (circle).

Figure 2

Angiography showing extravascular extravasation of contrast and dissection of left iliac artery.

Figure 3

CT showing arterial dissection of left iliac artery and abdominal aorta with retention of contrast post-DSA (A and B) and CT-angiogram without active bleeding (C and D).

Figure 4

Follow-up head-CT conducted a week after the initial bleeding evidencing areas of cerebral ischaemia in the right anterior and middle cerebral territories determining midline shift.