[Uncommon presentation of tuberous sclerosis in an infant]

We report on an infant with an unusual presentation of tuberous sclerosis. After uncomplicated birth, a routine ultrasound was performed because the patient's brother had undergone nephrectomy at the age of four months due to multicystic renal dysplasia. All other family members were healthy. Multiple renal cysts were found in the boy's left kidney. The right kidney, which was normal initially, showed cysts after a few months. In a follow-up sonography at the age of 10 months, we found an aortic aneurysm measuring 4 × 7 cm. A brain NMR showed typical signs of tuberous sclerosis. Aortic aneurysm is very rarely associated with tuberous sclerosis. As a TSC2/PKD1 contiguous gene syndrome was excluded, in this case the child probably has two different diseases, i.e. tuberous sclerosis in addition to phenotypically unusual multicystic renal dysplasia.