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| T1 post-gad | T1 post-gad | T2 |
Diagnosis: Tuberous sclerosis
Tuberous sclerosis is an autosomal dominant phacomatosis. One third to one half of the cases are inherited while the rest are spontaneous. The classic triad of seizures, low intelligence, and facial adenoma is seen in less than 50% of cases. Imaging demonstrates subependymal hamartomas which calcify with advancing age and may show variable enhancement. Cortical tubers or hamartomas are seen in most patients with tuberous sclerosis. These do not typically enhance and are seen as bright subcortical foci on T2. These also tend to calcify with advancing age. Subependymal giant cell astrocytomas are characteristic of TS. They occur in the lateral ventricles, near the foramen of Monro and are present in 15% of patients. Multiple other abnormalities may be present elsewhere including shagreen skin patches, cardiac rhabdomyomas, and renal angiomyolipomas. There is no differential when all these findings are seen together. The subependymal nodules of TS may suggest heterotopic gray matter however, the nodules in heterotopias signal exactly like gray matter. This patient had adenoma sebaceum, seizures, ash leaf spots, retinal hamartomas, molluscum pendulum and borderline intelligence. Further workup revealed liver and kidney angiomyolipomas. There was no family history of TS. Related Cases
