Background: Tuberous sclerosis is a protean, genetically determined disease that may involve any organ or tissue and lead to a great number of symptoms and clinical features.
Objective: Diagnosis can be very difficult in cases with incomplete manifestations (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 cysts and angiomyolipomas, and "migration tracts" in the cerebral white matter) in association with a giant intracranial aneurysm, but lacking mental retardation, epilepsy and facial angiofibroma.
Results: Fourteen other cases of tuberous sclerosis and intracranial aneurysms, 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 (mainly intracranial) in particular can be added to the other non-primary diagnostic features for the clinical diagnosis of tuberous sclerosis.