Presentation
Abdominal pain on background of learning difficulties and adenoma sebaceum
Patient Data
Patient with clinical & radiologic evidence of tuberous sclerosis
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 hyperattenuating mass with a prominent and tortuous vessel traversing within it with a focal aneurysm.
The bowels are inferiorly displaced by the enlarged kidneys. Minimal ascites.
Incidental finding of multiple pulmonary cysts in the lung bases.
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, learning difficulties, and adenoma sebaceum. The neurological 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. Association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) has been documented.
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