Tuberous sclerosis (multisystem involvement)

Case contributed by A.Prof Frank Gaillard

Presentation

Epilepsy and slow development.

Patient Data

Age: 30 years
Gender: Female

Numerous T2 hyperintense lesions of varying size with no overt mass effect, consistent with tubers, are scattered peripherally through both cerebral hemispheres (cortical/subcortical distribution), with additional signal abnormality anterior in the right cerebellar hemisphere.

In addition, numerous tiny isointense subependymal nodules, consistent with hamartomata, line both lateral ventricles. Features are in keeping with tuberous sclerosis

A heterogeneous and calcified (confirmed on CT) periventricular nodule near the foramen of Munro may represent a small giant cell astrocytoma, or merely a large subependymal nodule.

A small left pleural effusion is present. The cardiomediastinal contour is within normal limits. No pneumothorax. Mild thoracic scoliosis convex to the right centred at approximately T7 noted. No other bony abnormality.

Image quality is degraded by movement artefact. Multiple cystic lesions are distributed throughout both lungs, consistent with tuberous sclerosis related lymphangiomyomatosis. The pleural spaces are clear. Mid thoracic dextroscoliosis noted.

Sclerotic foci are distributed throughout the cervical and upper thoracic spine, consistent with bone islands.

Multiple bilateral well marginated cortical heterogenous tumoral lesions within the kidneys, with areas of fat density, are most likely angiomyolipomas. The large right lesion is hyperdense precontrast, isodense with muscle.

Bilateral small renal cysts. Segment 3 and segment 5 & 6 hypoattenuating, fat density, liver lesions with no contrast enhancement. Although these are not well defined but given the fatty density can be compatible with hepatic AMLs.

Multiple sclerotic bone lesions are seen. 

Multiple hyperechoic focal lesions are seen in both kidneys. They measure about 2.5 cm in the left upper pole and 3.6 cm in the right upper pole and 2.9 cm in the right lower pole. They are likely angiomyolipomas. A 4.0 cm cyst is seen in the right renal upper pole. A further two echogenic lesions are seen in the right lobe of the liver, they may represent haemangiomata or angiomyolipomas.

Case Discussion

This case demonstrates many of the characteristic features of tuberous sclerosis including: 

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Case information

rID: 30677
Case created: 28th Aug 2014
Last edited: 30th May 2017
Inclusion in quiz mode: Included

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