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

Pediatr Radiol. 1999 Mar;29(3):206-11. doi: 10.1007/s002470050573.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Angiofibroma / complications
  • Angiofibroma / diagnosis
  • Brain / blood supply*
  • Carotid Artery, Internal / pathology
  • Child
  • Diagnosis, Differential
  • Epilepsy / complications
  • Epilepsy / diagnosis
  • Facial Neoplasms / complications
  • Facial Neoplasms / diagnosis
  • Follow-Up Studies
  • Humans
  • Intellectual Disability / complications
  • Intellectual Disability / diagnosis
  • Intracranial Aneurysm / complications
  • Intracranial Aneurysm / diagnosis*
  • Magnetic Resonance Angiography
  • Magnetic Resonance Imaging*
  • Male
  • Tuberous Sclerosis / complications
  • Tuberous Sclerosis / diagnosis*