Axial CT study for the brain with IV contrast administration
Calcified subependymal tubers are seen confirming the diagnosis
of tuberous sclerosis
Diagnosis : tuberous sclerosis
Teaching points :
· One of the phacomatosis( neuroectodermal disorders ) characterized by hamartomatous tumors + malformations occurring in brain, eyes, bone, kidneys, lung, skin, heart and visceral involvement .
· Classic clinical triad ( in only 30%) : seizures, mental retardation, and adenoma sebaceum
· Brain involvemet: subependymal tubers ( pathognomonic finding ), giant cell astrocytoma at the region of foramen of Monro, cortical and subcortical tubers and gray matter heterotopia.
· Renal involvement: angiomyolipoma ( 40-90%) , simple cysts ( 15%),and renal cell carcinoma (1-3%)
· Ocular involvement: retinal hamartoma, optic nerve glioma
· Lung involvement:interstitial lung disease, lymphangioleiomyomatosis, pneumothorax, and chylothorax
· Heart involvement: cardiomyopathy, subendocardial rhabdomyoma
· Bone involvement: bone islands in pelvic brim, vertebrae, long bones,sclerotic calvarial patches and bone cysts.
· Visceral involvement: multiple lipomas of liver, adenomas of pancreas and tumors of spleen.