Midaortic Syndrome in TSC

Background/Purpose: Tuberous Sclerosis (TSC) is a rare genetic disease with multisystem manifestations that mainly affects the brain, kidneys, skin and other organs. Vascular involvement is a less common clinical symptome in TSC. Here, we present a pediatric patient with TSC and additional severe mid-aortic syndrome.

Case Report: A 12-year-old boy was previously diagnosed in Syria based on multiple cutaneous manifestations and epilepsy. Additionally, he presented with high-grade obesity and hypertension. An abdominal MRI revealed no renal angiomyolipomas, but a cirrhosis of the left kidney. Further diagnosis work-up with an MRI angiography showed a hypoplastic left renal artery and an infrarenal coarctation of the aorta with multiple collaterals in the abdominal wall providing the perfusion of the lower limbs. Pulses in the lower limbs were absent, the ankle-brachial-index was below 0.4 on both sides. In accordance with the previous results his maximum walking distance was shortened to 100 m with typical symptoms of intermittent claudication. Our therapy of choice is the implantation of an aorto-bifemoral prosthesis and a nephrectomy of the non-functional left kidney. We do not only aim at the improvement of the lower limb perfusion, but also of the arterial hypertension.

Conclusion: Vascular involvement is a rare but important complication of tuberous sclerosis. Until now mainly aneurysmal arterial disease has been reported. In accordance with a small number of previously reported cases, this case report shows that stenotic-occlusive disease may be another complication of tuberous sclerosis and may cause renal arterial hypertension, loss of renal function and claudication at young age.