Marfan's Syndrome Presenting with Abdominal aortic aneurysm: A Case for Vigilance

Abstract

We present the case of a 16-year old student with Marfan's syndrome and abdominal aortic aneurysm who presented with a diagnostic conundrum. He presented with a three months history of progressive painful left upper abdominal mass and back pain. It became severe in the last two weeks before presentation and was associated with constipation. This mass was though to be of splenic origin but the initial ultrasound suggested a pancreatic pseudocyst. Review of his previous hospital record revealed that he had been treated for severe myopia which started at infancy. Another opthalmic review at our centre revealed bilateral ectoppia lentis. He had no cardiac signs and no family history of cardiovascular diseases. He is the 6th of 8 siblings, all the family members are alive and health except one sibling who died at 7 months. The diagnosis of abdominal aortic aneurysm was only made at laparotomy and confirmed by on-table aortogram. He had excision of the aneurysmal sac and replacement with on-lay dacron tube graft. He died on the 4th post-operative day. A diagnosis of abdominal aortic aneurysm was not made at initial presentation because of the rarity of this condition in our environment and incompetence of the ultrasonographer. Aortic aneurysm in Marfan's syndrome is commonly found in the thoracic part of the aorta, however in this case, it is abdominal. A high index of suspicion is necessary to avoid missing this pathology, therefore the need for vigilance.