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Tuberous sclerosis

Case contributed by Vitalii Rogalskyi
Diagnosis certain

Presentation

Head trauma. Incidental findings

Patient Data

Age: 40 years
Gender: Female

CT brain

ct

There are multiple calcified subependymal nodules along the margins of the lateral ventricles consistent with subependymal hamartomas. No parenchyma abnormality. No signs of traumatic brain injury.

CT of the brain does not show any traumatic injury but demonstrates calcified subependymal nodules (hamartomas), suspicious for tuberous sclerosis (TS). 

The next step will be CT of chest and abdomen to search for other signs of TS.

CT chest

ct

Numerous thin-walled lung cysts consistent with lymphangioleiomyomatosis are seen. No pneumothorax. No pleural effusion.

CT abdomen

ct

Multiple different size renal angiomyolipomas are demonstrated. There are two hypervascular lesions in the left liver lobe, best seen in arterial phase, almost isodense in venous phase, and hypodense in the delayed phase.

Case Discussion

In this case, there are three major features of tuberous sclerosis diagnostic criteria: subependymal nodules, lymphangioleiomyomatosis and renal angimyolipomas (more than 2). So patient has a definite TS complex. Interestingly, patient has no clinical symptoms or skin lesions.

Hepatic hypervascular lesions can be interpreted as angiomatous type of hepatic angiomyolipomas without macroscopic fat.

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