Tuberous sclerosis

Case contributed by Dr Alexandra Stanislavsky

Presentation

"Follow up". Past history of right frontal tumour with incomplete excision.

Patient Data

Age: 50
Gender: Female
CT

There are multiple calcified subependymal nodules.  Right frontal gliosis and overlying cavalrial defect in keeping with the history of previous tumour resection.  A VP shunt is also present.

MRI

MRI shows the subependymal nodules to be isointense on T1 and T2 with blooming on GRE - in keeping with the known calcification.  The largest, right frontal nodule is enhancing.  However, we've compared this MR to previous studies, and it has been stable in size and degree of enhancement for several years. 

Ultrasound

The kidneys have been almost completely replaced by angiomyelolipomas, and appear grossly enlarged and echogenic with loss of corticomedullary differentiation.  There are also several renal cysts.  

Within the liver, there are several cysts as well as small echogenic lesions.  The differential for the echogenic lesions in this patient includes haemangioma and angiomyolipoma.  Whilst angiomyolipomas of the liver are generally rare (and haemangiomas very common), there is a reported association of multiple hepatic angiomyolipomas with tuberous sclerosis, particularly in patients with diffuse renal angiomyolipomas1.

CT

CT demonstrates much better the extent of bilateral renal replacement and enlargement by the extensive AMLs. Note that as well as the multiple hepatic cysts, there are two lesions in the liver which are essentially isointense pre-contrast, demonstrate vivid arterial enhancement, and are again isointense in the portovenous phase.  These likely correspond to the echogenic lesions seen on ultrasound, and the enhancement pattern supports the suspicion of TS-associated angiomyolipomas, rather than haemangiomas.

A large submucosal fibroid is also present -presumably incidental rather than syndromic, with IUD in situ (conceivably, to control the menstrual abnormalities which such a large fibroid is likely to cause).  Note also peritoneal end of the VP shunt.  

CT

The uppermost slices of the abdominal CT, windowed to lung, demonstrate the typical cystic changes of lymphangiomyomatosis.

Case Discussion

This case demonstrates the typical intracranial, intra-abdominal and lung findings of tuberous sclerosis

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Case information

rID: 16850
Case created: 25th Feb 2012
Last edited: 27th Jul 2017
Inclusion in quiz mode: Included

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