Marfan syndrome

Case contributed by Mostafa Elfeky
Diagnosis almost certain

Presentation

Low back pain and urinary incontinence.

Patient Data

Age: 40 years
Gender: Female
ct

 Thoracic aorta

  • extensive aortic root dilatation measuring up to 9.6 cm regarding its maximum dimensions as well as the sino-tubular junction
  • normal caliber of the ascending aorta, arch and descending thoracic aorta and the visceral branches (left subclavian, left common carotid and brachiocephalic arteries) 

 Abdominal aorta

  • normal caliber of the supra and infra-renal abdominal aorta and the visceral branches (celiac trunk and inferior mesenteric arteries) 

Other findings

  • gross cardiomegaly
  • lumbosacral dural ectasia with scalloping of the dorsal surface of the vertebrae
  • intrasacral meningocele
  • passive hepatomegaly
  • lumbar scoliosis with convexity to left 

Case Discussion

The findings on this CT that suggests Marfan syndrome as the unifying diagnosis include:

  • dural ectasia
  • enlarged sacral foramina, sacral meningocele with scalloping of the dorsal surface of vertebral bodies
  • dilated aortic root with multi-chamber gross cardiac enlargement and passive congestive hepatomegaly

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