Tuberous sclerosis

Case contributed by A.Prof Frank Gaillard


Trauma. Previously well boy.

Patient Data

Age: 3 years
Gender: Male

Non contrast CT demonstrates a large calcified mass in the frontal horn of the left lateral ventricle with two other small calcified foci projecting into the ventricle on the right. This was an incidental finding in a trauma setting. The mass appears subependymal rather than periventricular (DDx TORCH infections

Following contrast administration no convincing enhancement is visible although given the degree of calcification it is difficult to assess. 


MRI is more informative, as not only does it demonstrate enhancement of the left frontal horn mass, but also demonstrates subcortical high T2 which matter regions scattered throughout the hemispheres (T2 series demonstrates frontal mass and subependymal nodules are seen as well as subcortical white matter hyperintensities). Sequences have not been optimized for imaging of the cortex, however, in places, there is the impression of thickened cortex (best seen on axial T1). The frontal horn mass presumably represents a subependymal giant cell astrocytoma.

Case Discussion

Even in the absence of intellectual disability, seizures and other cutaneous stigmata of tuberous sclerosis this case still fulfills diagnostic criteria for 'definite tuberous sclerosis', rather than representing a forme fruste of the disease. 

We await with interest any histology or further features (e.g. renal angiomyolipomas, skin lesions etc..) to further support the diagnosis. Patients with forme fruste of tuberous sclerosis often do not manifest seizures until later in life. 

Case courtesy of Dr.Deepak Adhikari.

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Case information

rID: 13996
Published: 11th Jun 2011
Last edited: 21st Aug 2019
Inclusion in quiz mode: Included

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