Abstract
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.
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Received: 18 August 1997 Accepted: 15 June 1998
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Beltramello, A., Puppini, G., Bricolo, A. et al. Does the tuberous sclerosis complex include intracranial aneurysms? . Pediatric Radiology 29, 206–211 (1999). https://doi.org/10.1007/s002470050573
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DOI: https://doi.org/10.1007/s002470050573