mercoledì 1 luglio 2009
Tuberous sclerosis with subependymal giant cell astrocytoma
Head CT shows a heterogeneous soft tissue mass in right lateral ventricle at right foramen of Monro. Heterogeneous contrast enhancement. Nodular ependymal calcifications. Hydrocephalus.
MR confirms heterogeneously enhancing mass at R foramen of Monro. T2 hyper intensity surrounding R frontal horn representing transependymal CSF resorption. Additional sub-ependymal nodule in L frontal horn.
Diagnosis: Tuberous sclerosis with subependymal giant cell astrocytoma.
TS is an inherited disorder of multiple hamartomatous lesions.
Classic clinical triad: Mental retardation, facial angiofibroma, seizure.
Subependymal nodules (SEN) (98%) 50% calcify. 30-80% enhance.
Enlarging SEN at foramen of Monro = Subependymal giant cell astrocytoma (SGCA)
Ventriculomegaly common, even in absence of obstructing SEN / SGCA.
Cortical / subcortical tubers (70-95%) cause thickening of cortex, gyral enlargement.
Number of tubers corresponds with degree of mental retardation.
White matter lesions – linear, wedge-shaped T2/FLAIR hyper intensities.
Extra cerebral TS: Renal angiomyolipoma / cysts (40-80%), cardiac rhabdomyoma (50-65%), lung LAM, subungual fibromas (15-20%), skin "ash-leaf spots," shagreen patches.