Tuberous sclerosis

Case contributed by Dalia Ibrahim
Diagnosis almost certain

Presentation

Seizures and mental retardation.

Patient Data

Age: 15 years
Gender: Female
mri
  • Bilateral cerebral subcortical patches of abnormal signal eliciting low signal on T1 and high signal on T2 & FLAIR WI with no diffusion restriction, suggestive of subcortical tubers.

  • It was hard though to detect subependymal nodules!?, except for bilateral frontal two small foci of isointense signal on T1 and blooming on GRE seen near the foramina of Monro, those were suspicious for calcific subependymal nodules.

  • Diffuse skull bony thickening and sclerosis is noted.

ct

The subcortical hypodense patches are subtle , while the previously suspected frontal subependymal nodules are clearly seen on this CT as calcific subependymal nodules.

Photo

The hardly seen subependymal nodules appear isointense on T1 WI and blooming on SWI. They appear calcific on CT study.

Case Discussion

The patient had the typical history of tuberous sclerosis in the form of seizures, mental retardation and cutaneous manifestations (adenoma sebaceum and hypomelanoic patches).

The MRI showed the typical bilateral cerebral scattered subcortical patches of abnormal high signal, impressive of subcortical tubers.

However, the challenging thing in this case was to detect the subependymal nodules which were very hard to detect. We suspected two small nodules at the frontal horns near the foramina of Monro which elicited isointesne signal on T1 and showed small blooming effect on SWI. That was confirmed on CT scan which showed calcific subependymal nodules.

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