Tuberous Sclerosis with SGCA
14 yr old male child has seizures and mental retardation. MRI shows non enhancing cortical hyperintensities on T2 and FLAIR. In addition, a large intensely and heterogenously enhancing intraventricular, foramen of Monroe Space occupying lesion with obstructive hydrocephalus with calcification. Features possibly represent cortical tubers with subependymal giant cell astrocytoma. Case submitted by-Dr MGK Murthy.
Tuberous sclerosis for the Radiologist
Synonym: Bournveilles disease. Genetic disease – mutation of TSC1and TSC2, which encode for proteins hamartin and Tuberin (act as tumour growth suppressive factors )
Dignostic criteria= 11 Major criteria and 9 minor criteria
Brain lesions
Tubers- triangular in shape with apex towards ventricles and look hyperintense on T2. It may subside with age , but histopathology will still reveal it. Represents neuronal migration disorder. Other MR findings –Radial white matter tracts hyperintense on T2. Heterotopic grey matter-Subependymal nodules—abnormal swollen glial cells and bizarre multinucleated cells . These could turn in to subependymal giant cell astrocytoma (SGCA). Ventricular enlargement
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