Tuberous sclerosis

Case contributed by Dr Hani Makky Al Salam

Presentation

Seizures.

Patient Data

Age: 10 years
Gender: Female

CT brain

CT

Multiple calcified subependymal nodules are noted along the margins of the lateral ventricles. 

MRI Brain

MRI

MRI demonstrates extensive T2 / FLAIR cortical and subcortical white matter regions of hyperintensity along with nodularity of the ventricular margins, which demonstrate signal drop out (best seen on gradient echo images) in keeping with calcification seen on CT. 

Ultrasound kidneys

Ultrasound

Ultrasound of the left kidney demonstrates an 8 mm region of hyperechogenicity within the renal parenchyma, consistent with an angiomyolipoma. 

Case Discussion

This case demonstrates typical features of tuberous sclerosis, and the diagnosis can be made with a high degree of certainty merely on imaging features. An understanding of associated lesions (e.g. angiomyolipomas) allows for patients to be screened, once the diagnosis is made. 

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