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.
Id prodotto:
15011
Handle IRIS:
11562/15011
depositato il:
5 dicembre 2014
ultima modifica:
14 novembre 2022
Citazione bibliografica:
Beltramello, A; Puppini, Giovanni; Bricolo, Andrea; Andreis, Ia; EL DALATI, Ghassan; Longa, L; Polidoro, S; Zavarise, G; Marradi, P.,
Does the tuberous sclerosis complex include intracranial aneurysms? A case report with a review of the literature.«Pediatric Radiology»
, vol. 29
, n. 3
, 1999
, pp. 206-211