Tuberous sclerosis (multisystem manifestations)

Case contributed by Dr Henry Knipe

Presentation

History withheld.

Patient Data

Age: 40 years
Gender: Female

Characteristic appearances of tuberous sclerosis are demonstrated, with normal multiple cortical and subcortical tubers and subependymal nodules many of which are calcified. No abnormal enhancement or large nodules to suggest subependymal giant cell astrocytoma. Ventricles are unremarkable in size.

Numerous thin walled rounded cysts of various sizes scattered throughout all lobes of both lungs. Note made of involvement of the medial right middle lobe, medial lingula as well as the costophrenic angles.

No pulmonary parenchymal nodules or ground-glass opacity. No reticulation or honeycombing. No pleural effusion or pneumothorax. No thoracic adenopathy.

Incompletely imaged kidneys; bilateral fat containing lesions consistent with renal angiomyolipomata noted. No osseous lesion.

Conclusion: Cystic lung disease compatible with lymphangioleiomyomatosis.

Courtesy of Dr Mark McCusker, The Royal Melbourne Hospital. 

Both kidneys contain multiple angiomyolipomas. The largest in the left kidney measures 7 cm in maximum dimension. The largest in the right kidney measures 4 cm in maximum dimension. The liver contains multiple tiny AML throughout both lobes of the liver. There is a sub 5 mm pancreatic neck AML. No other mass lesions are identified. Conclusion Findings consistent with known tuberous sclerosis.

Case Discussion

Multisystem manifestations of tuberous sclerosis:

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Case information

rID: 57130
Case created: 8th Dec 2017
Last edited: 27th Jan 2018
Inclusion in quiz mode: Included

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