Intracranial Manifestations of Tuberous Sclerosis: A Pictorial Essay

Tuberous sclerosis is an autosomal dominant genetic disease that involves multiple organs.Hamartomas are the predominant lesions. Classically, tuberous sclerosis has been characterizedby a classical clinical triad of facial angiofibromas (90%), mental retardation (50-80%),seizure (80-90%) and all three in 30% of the patients. Two major features or one major featureplus two minor features are necessary for the definite diagnosis of this disease. We hadsome patients admitted with different presentations of tuberous sclerosis and a past historyof convulsion from childhood, skin lesions and also mental retardation with a new onsetheadache and a changed pattern of convulsion. In physical examination, facial angiofibromasand subungual fibromas were apparently detected. Brain CT scan study with contrastshowed multiple calcified nodules associated with tubers, ventriculomegaly and also enhancingenlarged nodules at the foramen of Monro, which were suggestive of subependymal giantcell astrocytoma (SGCA). MRI showed the same brain findings (tubers, white matter lesionsand subependymal nodules associated with SGCA), which were detected better. After surgery,SGCA was proved. In abdominal and pelvic CT scan and ultrasonography, massive bilateralangiomyolipomatosis and focal hypodense hyperechoic liver lesions were detected.