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