ACR Codes: 1.3
Clinical Presentation:
Tuberous sclerosis, or Bourneville's disease, can either be spontaneous (60%) or inherited through a mutation on chromosome 9 or 11 (40%). 1 in 10,000 to 150,000 individuals are diagnosed with the disease. Adenoma sebaceum, mental retardation and seizures are commonly seen. The disease affects the whole body with retinal hamartomas, shagreen patches, ungual fibromas, rhabdomyomas of the heart, angiomyolipomas of the kidney, cystic skeletal lesions, and intracranial manifestations also seen.
Pathology/Imaging:
95% of patients show hamartomas, including periventricular subependymal nodules, cortical and subcortical peripheral tubers, white matter lesions, and subependymal giant cell astrocytomas. Periventricular subependymal nodules appear calcified and rarely enhance. The tubers and white matter lesions are commonly located in the frontal lobes. The tubers show high intensity on T2WI while the white matter lesions do not typically enhance. These lesions appear as curvilinear or straight, thin bands extending from the ventricles. Subependymal giant cell astrocytomas arise from the degeneration of the subependymal nodules. They enhance moderately, show high signal intensity on T2WI, and are located at the foramina of Monroe. These astrocytomas typically cause hydrocephalus and show a low rate of calcification. However, these astrocytomas only occur in 1.7 to 15% of cases.
Differential Diagnosis:
Differential diagnosis of giant cell astrocytoma is central neurocytoma, ependymoma, subependymoma, and a colloid cyst.
Treatment:
Resection of the GCA or shunting to treat hydrocephlaus.
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Disease Topic 2211 
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