Tuberous sclerosis
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Presentation
Abdominal pain on background of learning difficulties and adenoma sebaceum.
Patient Data
Multiple fat-attenuating lesions in the liver with internal soft-tissue attenuation structures. 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 hyperattenuating mass with a prominent and tortuous vessel traversing within it with a focal aneurysm.
The bowel is displaced inferiorly by the enlarged kidneys. Minimal ascites.
Incidental finding of multiple pulmonary cysts in the lung bases.
Anemia can be recognized by decreased blood attenuation and consequent definition of the interventricular septum.
There are multiple hypopigmented facial papules predominantly in the cheek area and nasolabial folds typical of adenoma sebaceum.
Case Discussion
The clinical triad of tuberous sclerosis in a young female includes seizures, learning difficulties, and adenoma sebaceum. The most common neuroimaging findings are cortical tubers and subependymal nodules. Abdominal findings include renal angiomyolipomas (AMLs) which may present acutely with hemorrhage, as in this case. The risk of hemorrhage is related to aneurysm size within the AMLs 3.
Hepatic angiomyolipomas and pulmonary lymphangioleiomyomatosis (LAM) are also recognized.
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