Does the tuberous sclerosis complex include intracranial aneurysms? A casereport with a review of the literature

Background. Tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptom s and clinical features. Objective. Diagnosis can be very difficult in cases with incomplete manifes tations (formes fruste) lacking the classic signs of the disease. Materials and methods. We report a case fulfilling the diagnostic criteria for tuberous sclerosis (shagreen patches, hypomelanotic macules, renal cyst s and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental reta rdation, epilepsy and facial angiofibroma. Results. Fourteen other cases of tuberous sclerosis and intracranial aneury sms, all but one without any clear sign of polycystic kidney disease, were found in the literature. Conclusion. We suggest that vascular dysplasias in general and aneurysms (m ainly intracranial) in particular can be added to the other non-primary dia gnostic features for the clinical diagnosis of tuberous sclerosis.