Tuberous Sclerosis (TS) or Bournville disease is a rare Autosomal Dominant (AD) neurocutaneous syndrome (phakomatoses) characterized by development of multiple benign tumors of in various organs. Since the characteristic clinical triad mentioned is mental retardation, adenoma sebaceum and seizures is uncommon, imaging plays an important role in diagnosis of this condition.Sometimes intrauterine diagnosis of TS of the fetus can be suspected with visualization of cardiac rhabdomyomas in ultrasound.
Below are some of the features of TS detectable in plain CT, in a 16yr old patient.
Above image shows the presence of characteristic calcified and non-calcified sub-ependymal nodules (red arrows). Calcification of these subpendymal hamartomas is less frequent in early childhood, where as cortical/subcortical tubers can calcify as early as 2yrs of age.
Image showing multiple cortical and subcortical hypodensities suggestive of cortical tubers (blue arrows). Most of the tubers in TS are located in frontal lobe.
Left foramen of Monro region shows a relatively homogenous, non-calcified lesion (blue arrows) measuring AP dimension of ~13mm - suspicious of a Subpendymal Giant Cell Astrocytoma (SGCA / SEGA). These are considered WHO-Grade 1 tumors, eventhough there is a potential of causing obstructive hydrocephalus. These are theorized to evolve from the subpendymal nodules. Histologically both SGCA and subpendymal hamartomas show same appearance.SGCAs can show intense enhancement, and may show calcifications and heterogeneity.
Same lesion in sagittal reformat (golden arrow).
A few calcified cerebellar tubers (green arrows).
Above bone window images show multiple calvarial
small sclerotic areas of hyperostosis (orange arrows).
small sclerotic areas of hyperostosis (orange arrows).
No comments:
Post a Comment