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Tuberous sclerosis

Case contributed by Hani Makky Al Salam
Diagnosis certain

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

There are 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

There is a 0.8 cm focus of hyperechogenicity within the left 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 relying 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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