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

Tuberous Sclerosis

These are the follow up images done for the case of bilateral Renal angiomyolipoma presented in this blog few days back. CT brain reveals characterstic subependymal nodules and CT chest shows lung cysts. These are classical findings of tuberous sclerosis.

Tuberous Sclerosis

"Cortical tubers, or hamartomas, are the most characteristic lesions of tuberous sclerosis. The appearance of cortical tubers on MRIs varies with patient age. In neonates and young children, the cortical tubers and subependymal nodules are hyperintense on T1-weighted images and hypointense on T2-weighted images. In older children and adults, the cortical and subependymal lesions are isointense or hypointense on T1-weighted images. They are hyperintense relative to gray matter, as well as white matter, on T2-weighted images, depending on the presence of calcification."

Further reading
emedicine-tuberous sclerosis

Dr.Sumer K Sethi, MD

Consultant Radiologist ,VIMHANS and CEO-Teleradiology Providers

Editor-in-chief, The Internet Journal of Radiology

Director, DAMS (Delhi Academy of Medical Sciences