Tuberous sclerosis

Case contributed by Dr Piyush P Siwach


Known genetic disease.

Patient Data

Age: 50 years
Gender: Female

Multiple bilateral fat containing lesions consistent with angiomyolipomas.

Multiple bilateral lung cysts with imperceptible walls, suggestive of lymphangiomyolipomas.

Sclerotic lesions in pelvic bones.

Case Discussion

Clinically, tuberous sclerosis has been described as a triad of seizures, intellectual disability and adenoma sebaceum.

Multiple other characteristic manifestation of the disease are seen on radiology, including renal angiomyolipomas, cortical or subependymal tubers, white matter abnormalities, subependymal giant cell astrocytomas (SGCA), lymphangiomyomatosis (LAM), cardiac rhabdomyomas, renal angiomyolipomas, renal cell carcinoma and oncocytomas, sclerotic bone lesion and other less common abnormalities.

This patient demonstrates the typical manifestations of the syndrome expected to be seen in the abdomen and lung base.

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Case information

rID: 53595
Published: 25th May 2017
Last edited: 21st Aug 2019
System: Urogenital
Inclusion in quiz mode: Included

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