Tuberous sclerosis complex with an unruptured intracranial aneurysm: manifestations of contiguous gene syndrome.

SUMMARY: With the advancement of molecular genetics, the deletion of the TSC2/PKD1 gene at chromosome 16p13.3 has been discovered to be responsible for the tuberous sclerosis complex sharing some of the clinical manifestations of autosomal dominant adult polycystic kidney disease such as multiple renal cysts and intracranial aneurysms. The unruptured aneurysm in tuberous sclerosis complex is far beyond the meaning it has in general population. The risk of aneurysmal hemorrhage in tuberous sclerosis complex may be higher than that in autosomal dominant adult polycystic kidney disease due to the synergistic effect of gene deletion and certainly much higher than that in the general population. For such high-risk patients with intracranial aneurysms doomed to subarachnoid hemorrh age, magnetic resonance angiography plays an important role in screening and follow-up, especially more critically for patients with contiguous gene syndrome. Endovascular coil embolization should be the first choice of treatment for un ruptured intracranial aneurysms.