Tuberous sclerosis

Case contributed by Dr Lemuel Marquez Narcise


Abdominal pain in a patient with intellectual retardation and adenoma sebaceum.

Patient Data

Age: 30 years
Gender: Female

Patient with clinical and radiologic evidence of tuberous sclerosis

There are multiple fat-attenuating lesions in the liver. Both kidneys are markedly enlarged and heterogeneous with multiple fat-attenuating parenchymal lesions.  These lesions are compatible with hepatic and renal angiomyolipomas.  Within the right kidney is a large predominantly hypoattenuating mass with a prominent and tortuous vessel traversing within it.  This large hypodense lesion within the right kidney is well-defined except for its irregular posteromedial border.

The bowels are inferiorly displaced by the enlarged kidneys. Minimal ascites is seen.

There is an incidental finding of multiple cystic foci interspersed within the partially visualized bilateral lung parenchyma.



There are multiple hypopigmented papules in the face, predominantly in the cheek area and nasolabial folds. These represent adenoma sebaceum which is associated with tuberous sclerosis.

Case Discussion

The clinical triad of tuberous sclerosis in a young female includes seizures, intellectual retardation, and adenoma sebaceum.  The neurologic findings most commonly include cortical tubers and subependymal nodules.  Abdominal findings include renal angiomyolipomas, some of which may have vessel dilatation (macroaneurysm) and have the propensity to bleed when large enough. Hepatic angiomyolipomas are also seen in patients with tuberous sclerosis. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented.

This case is a young female with clinical presentation of intellectual retardation and adenoma sebaceum.  Abdominal findings include hepatic and renal angiomyolipomas.  There is possible evidence of rupture in the right kidney, including ascites.  Partially visualized lungs indicate lymphangioleiomyomatosis.  The clinical and imaging findings point to tuberous sclerosis.  

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Case information

rID: 44238
Published: 13th Apr 2016
Last edited: 20th Aug 2019
Inclusion in quiz mode: Included
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