Ehlers-Danlos Syndrome

Etiology: Vasculopathy of medium and large arteries due to connective tissue disorder of collagen with Type 4 being most commonly associated with vascular complications
Imaging: Affects medium and large arteries in any location
DDX:
Complications:
— Vascular – vessel aneurysm, dissection, rupture, fistulae
— Intestinal rupture
— Uterine rupture
Treatment: Vascular lesions are traditionally treated conservatively as high mortality rates are reported after vascular reconstruction
Clinical: Hypermobility, skin extensibility, tissue fragility

Radiology Cases of Ehlers-Danlos Syndrome

Radiology Cases of Vascular Dissection in Ehlers-Danlos Syndrome

CT of pseudoaneurysm in Ehlers-Danlos Syndrome — Axial CT with contrast of the abdomen shows an intimal flap in the superior mesenteric artery and a large retroperitoneal hematoma.

Radiology Cases of Atlanto Axial Instability in Ehlers-Danlos Syndrome

Flexion and extension radiographs of atlanto axial instability — Lateral radiograph of the cervical spine in extension (left) shows the atlanto dental interval to measure 0 mm. Lateral radiograph of the cervical spine in flexion (right) shows the atlanto dental interval to measure 7 mm.