Tuberous sclerosis

Case contributed by Dr Vitalii Rogalskyi

Presentation

Head trauma. Incidental findings

Patient Data

Age: 40 years
Gender: Female
CT

CT brain

CT of the brain: multiple calcified subependymal nodules along the margins of the lateral ventricucles consistent with subependymal hamartomas. No signs of traumatic brain injury.

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

So next step will be CT of chest and abdomen for searching another signs of TS.

CT

CT chest

CT of the chest: numerous thin-walled lung cysts consistent with lymphangioleiomyomatosis. No pneumothorax. No pleural effusion.

CT

CT abdomen

CT of the abdomen: multiple renal angiomyolipomas.

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.

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Case information

rID: 66183
Published: 10th Feb 2019
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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