Tuberous sclerosis

Case contributed by Dr Hani Salam

Presentation

Seizures.

Patient Data

Age: <10 years old
Gender: Female

CT brain

Modality: CT

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

MRI Brain

Modality: 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

Modality: 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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Case Information

rID: 10286
Case created: 31st Jul 2010
Last edited: 19th Mar 2017
Tags: brain, kidney
Inclusion in quiz mode: Included

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